--
--


SELECT pg_catalog.set_config('search_path', '', false);

--
-- Name: cpic; Type: SCHEMA; Schema: -; Owner: -
--

CREATE SCHEMA cpic;


--
-- Name: increment_version(); Type: FUNCTION; Schema: cpic; Owner: -
--

CREATE FUNCTION cpic.increment_version() RETURNS trigger
    LANGUAGE plpgsql
    AS $$
BEGIN
  new.version := new.version + 1;
  return new;
END;
$$;


--
-- Name: pharmgkb_guideline_alleles(text); Type: FUNCTION; Schema: cpic; Owner: -
--

CREATE FUNCTION cpic.pharmgkb_guideline_alleles(pharmgkbdrugid text) RETURNS TABLE(genesymbol text, chr text, lookupmethod text, alleles text[])
    LANGUAGE sql STABLE
    AS $$
select
    a.genesymbol,
    g.chr,
    g.lookupmethod,
    array_agg(distinct a.name order by a.name) as alleles
from allele a join gene g on a.genesymbol=g.symbol
where
    a.clinicalfunctionalstatus is not null
    and g.lookupmethod!='ALLELE_STATUS'
    and a.genesymbol in (
        select distinct jsonb_object_keys(p.lookupkey) as genes
        from recommendation p join guideline g on p.guidelineid = g.id join drug d on p.drugid=d.drugid
        where d.pharmgkbid=pharmgkbdrugid
    )
group by a.genesymbol, g.chr, g.lookupmethod
union all
select
    g.symbol as genesymbol,
    g.chr,
    g.lookupmethod,
    array_agg(distinct a.value order by a.value) as alleles
from
    recommendation r
    join drug d on r.drugid = d.drugid,
    jsonb_each_text(r.lookupkey) a
    join gene g on (a.key=g.symbol)
where
    r.allelestatus is not null
    and g.lookupmethod='ALLELE_STATUS'
    and d.pharmgkbid=pharmgkbdrugid
    and upper(a.value) != 'NO RESULT'
group by g.symbol, g.chr, g.lookupmethod
$$;


--
-- Name: FUNCTION pharmgkb_guideline_alleles(pharmgkbdrugid text); Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON FUNCTION cpic.pharmgkb_guideline_alleles(pharmgkbdrugid text) IS 'For a given PharmGKB drug ID, list the alleles that are options for looking up recommendations';


--
-- Name: pharmgkb_guideline_recommendation(text, text); Type: FUNCTION; Schema: cpic; Owner: -
--

CREATE FUNCTION cpic.pharmgkb_guideline_recommendation(drugidarg text, lookupkeyarg text) RETURNS TABLE(drugname text, recommendationid integer, implications jsonb, drugrecommendation text, classification text, phenotypes jsonb, activityscore jsonb, allelestatus jsonb, population text, comments text)
    LANGUAGE sql STABLE
    AS $$
select
    d.name as drugname,
    r.id as recommendationid,
    r.implications,
    r.drugrecommendation,
    r.classification,
    r.phenotypes,
    r.activityscore,
    r.allelestatus,
    r.population,
    r.comments
from recommendation r join drug d on r.drugid = d.drugid join guideline g on r.guidelineid = g.id
where lookupkey <@ (
    select jsonb_object_agg(a.key, coalesce(d.lookupkey -> a.key, a.value)) as lookup
    from
        json_each(lookupkeyArg::json) a
            left join diplotype d on (d.diplotypekey=jsonb_build_object(a.key, a.value))
)
  and d.pharmgkbid=drugidArg
$$;


--
-- Name: FUNCTION pharmgkb_guideline_recommendation(drugidarg text, lookupkeyarg text); Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON FUNCTION cpic.pharmgkb_guideline_recommendation(drugidarg text, lookupkeyarg text) IS 'For a given PharmGKB guideline and genotype lookup JSON key, give the matching recommendations';


--
-- Name: pharmgkb_recommendation(text); Type: FUNCTION; Schema: cpic; Owner: -
--

CREATE FUNCTION cpic.pharmgkb_recommendation(lookupkeyarg text) RETURNS TABLE(drugname text, drugid text, recommendationid integer, implications jsonb, drugrecommendation text, classification text, phenotypes jsonb, activityscore jsonb, allelestatus jsonb, population text, comments text, guidelineurl text)
    LANGUAGE sql STABLE
    AS $$
select
    d.name as drugname,
    d.pharmgkbid as drugid,
    r.id as recommendationid,
    r.implications,
    r.drugrecommendation,
    r.classification,
    r.phenotypes,
    r.activityscore,
    r.allelestatus,
    r.population,
    r.comments,
    g.url as guidelineurl
from recommendation r join drug d on r.drugid = d.drugid join guideline g on r.guidelineid = g.id
where lookupkey <@ (
    select jsonb_object_agg(a.key, coalesce(d.lookupkey -> a.key, a.value)) as lookup
    from
        json_each(lookupKeyArg::json) a
            left join diplotype d on (d.diplotypekey=jsonb_build_object(a.key, a.value))
)
$$;


--
-- Name: FUNCTION pharmgkb_recommendation(lookupkeyarg text); Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON FUNCTION cpic.pharmgkb_recommendation(lookupkeyarg text) IS 'For a given genotype lookup JSON key, give the matching recommendations for all available drugs';


--
-- Name: cpic_id; Type: SEQUENCE; Schema: cpic; Owner: -
--

CREATE SEQUENCE cpic.cpic_id
    START WITH 110000
    INCREMENT BY 1
    NO MINVALUE
    NO MAXVALUE
    CACHE 1;




--
-- Name: drug; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.drug (
    drugid character varying(20) NOT NULL,
    name text NOT NULL,
    pharmgkbid character varying(20),
    rxnormid character varying(20),
    drugbankid character varying(20),
    atcid text[],
    umlscui character varying(20),
    flowchart text,
    version integer DEFAULT 1,
    guidelineid integer
);


--
-- Name: TABLE drug; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.drug IS 'A clinically-used drug.';


--
-- Name: COLUMN drug.drugid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.drug.drugid IS 'A unique identifier for this drug in the form "source:id" where source is some outside knowledge resource and id is their identifier, primary key';


--
-- Name: COLUMN drug.name; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.drug.name IS 'The generic name for this drug, lower-cased, required';


--
-- Name: COLUMN drug.pharmgkbid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.drug.pharmgkbid IS 'The PharmGKB ID for this drug, optional';


--
-- Name: COLUMN drug.rxnormid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.drug.rxnormid IS 'The RxNorm ID for this drug, optional';


--
-- Name: COLUMN drug.drugbankid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.drug.drugbankid IS 'The DrugBank ID for this drug, optional';


--
-- Name: COLUMN drug.atcid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.drug.atcid IS 'One or more ATC IDs for this drug in an array, optional';


--
-- Name: COLUMN drug.umlscui; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.drug.umlscui IS 'The UMLS Concept Unique ID for this drug, optional';


--
-- Name: COLUMN drug.flowchart; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.drug.flowchart IS 'URL for the flow chart image of this drug';


--
-- Name: COLUMN drug.guidelineid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.drug.guidelineid IS 'The guideline this drug is part of a guideline, null means not a part of any guideline';


--
-- Name: guideline; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.guideline (
    id integer DEFAULT nextval('cpic.cpic_id'::regclass) NOT NULL,
    version integer DEFAULT 1,
    name text NOT NULL,
    url text,
    pharmgkbid text[],
    genes text[],
    notesonusage text
);


--
-- Name: TABLE guideline; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.guideline IS 'A guideline for a drug or group of drugs';


--
-- Name: COLUMN guideline.id; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.guideline.id IS 'A synthetic numerical ID, primary key';


--
-- Name: COLUMN guideline.version; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.guideline.version IS 'The version number, iterates on modification';


--
-- Name: COLUMN guideline.name; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.guideline.name IS 'The name (title) of this guideline, required';


--
-- Name: COLUMN guideline.url; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.guideline.url IS 'The URL of this guideline on the cpicpgx.org domain, optional';


--
-- Name: COLUMN guideline.pharmgkbid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.guideline.pharmgkbid IS 'The IDs from PharmGKB for their annotations of this guideline, optional';


--
-- Name: COLUMN guideline.genes; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.guideline.genes IS 'The subject genes of this guideline';


--
-- Name: COLUMN guideline.notesonusage; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.guideline.notesonusage IS 'Notes about using a particular guideline within this system. This may include. You may find information here when data for a guideline seems missing or incomplete.';


--
-- Name: recommendation; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.recommendation (
    id integer DEFAULT nextval('cpic.cpic_id'::regclass) NOT NULL,
    guidelineid integer,
    drugid character varying(20),
    implications jsonb,
    drugrecommendation text,
    classification character varying(20),
    phenotypes jsonb,
    activityscore jsonb,
    allelestatus jsonb,
    lookupkey jsonb,
    population text,
    comments text,
    version integer DEFAULT 1,
    dosinginformation boolean DEFAULT false,
    alternatedrugavailable boolean DEFAULT false,
    otherprescribingguidance boolean DEFAULT false
);


--
-- Name: TABLE recommendation; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.recommendation IS 'Recommendations for a gene result pulled from a guideline';


--
-- Name: COLUMN recommendation.id; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.recommendation.id IS 'A synthetic numerical ID, auto-assigned, primary key';


--
-- Name: COLUMN recommendation.guidelineid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.recommendation.guidelineid IS 'The guideline this recommendation appears in';


--
-- Name: COLUMN recommendation.drugid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.recommendation.drugid IS 'The drug this recommendation is for';


--
-- Name: COLUMN recommendation.implications; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.recommendation.implications IS 'Implications for phenotypic measures, this is a JSON mapping of gene to implication';


--
-- Name: COLUMN recommendation.drugrecommendation; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.recommendation.drugrecommendation IS 'Dosing or therapeutic recommendations, depending on particular drug';


--
-- Name: COLUMN recommendation.classification; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.recommendation.classification IS 'Classification of recommendations, described in supplementary meterial';


--
-- Name: COLUMN recommendation.phenotypes; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.recommendation.phenotypes IS 'Phenotypes that this recommendation applies to, this is a JSON mapping of gene to phenotype';


--
-- Name: COLUMN recommendation.activityscore; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.recommendation.activityscore IS 'Activity score that this recommendation applies to, this is a JSON mapping of gene to score value';


--
-- Name: COLUMN recommendation.allelestatus; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.recommendation.allelestatus IS 'Whether or not an allele is present, used mainly for HLA genes, and used for recommendation lookups. This is a JSON mapping of gene to allele status (positive/negative)';


--
-- Name: COLUMN recommendation.lookupkey; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.recommendation.lookupkey IS 'A key to use for finding a specific recommendation. Made of a JSON object of gene symbol to key value. The key value can be one of phenotype, activity score, or allele status depending on the gene.';


--
-- Name: COLUMN recommendation.population; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.recommendation.population IS 'The population this recommendation is applicable to';


--
-- Name: COLUMN recommendation.comments; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.recommendation.comments IS 'Optional comments about the recommendation';


--
-- Name: COLUMN recommendation.dosinginformation; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.recommendation.dosinginformation IS 'The guideline recommends a dose adjustment based on genetic variants or phenotypes (e.g. "poor metabolizers") as a primary course of action. However, the guideline may also describe extenuating circumstances where this action is not appropriate.';


--
-- Name: COLUMN recommendation.alternatedrugavailable; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.recommendation.alternatedrugavailable IS 'The guideline recommends that an alternate drug be selected for patients based on genetic variants or phenotypes (e.g. "poor metabolizers") as a primary course of action. However, the guideline may also describe extenuating circumstances where this action is not appropriate.';


--
-- Name: COLUMN recommendation.otherprescribingguidance; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.recommendation.otherprescribingguidance IS 'The guideline and other prescribing guidance not described as either dose adjustment or alternate drug.';


--
-- Name: recommendation_view; Type: VIEW; Schema: cpic; Owner: -
--

CREATE VIEW cpic.recommendation_view AS
 SELECT r.id AS recommendationid,
    r.lookupkey,
    d.name AS drugname,
    g.name AS guidelinename,
    g.url AS guidelineurl,
    r.implications,
    r.drugrecommendation,
    r.classification,
    r.phenotypes,
    r.activityscore,
    r.population,
    r.comments
   FROM ((cpic.recommendation r
     JOIN cpic.drug d ON (((r.drugid)::text = (d.drugid)::text)))
     JOIN cpic.guideline g ON ((r.guidelineid = g.id)));


--
-- Name: VIEW recommendation_view; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON VIEW cpic.recommendation_view IS 'A view to help find recommendation data when querying by the lookupKey';


--
-- Name: recommendation_lookup(text); Type: FUNCTION; Schema: cpic; Owner: -
--

CREATE FUNCTION cpic.recommendation_lookup(diplotypelookup text) RETURNS SETOF cpic.recommendation_view
    LANGUAGE sql STABLE SECURITY DEFINER
    AS $$
select * from cpic.recommendation_view where lookupkey <@ (
    select jsonb_object_agg(key, value) as lookupkey
    from (select lookupkey from cpic.diplotype where diplotypekey <@ diplotypelookup::jsonb) x,
        json_each(x.lookupkey)
)
$$;


--
-- Name: FUNCTION recommendation_lookup(diplotypelookup text); Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON FUNCTION cpic.recommendation_lookup(diplotypelookup text) IS 'This function helps translate diplotypes into recommendation data. This relies on the recommendation_view to gather and filter relevant information. The diplotypelookup parameter is a JSON object of gene symbol to JSON allele representation.';


--
-- Name: test_alert; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.test_alert (
    id integer DEFAULT nextval('cpic.cpic_id'::regclass) NOT NULL,
    population text,
    cdscontext text NOT NULL,
    genes text[],
    phenotype jsonb,
    activityscore jsonb,
    allelestatus jsonb,
    lookupkey jsonb,
    drugid character varying(20),
    alerttext text[] NOT NULL,
    version integer DEFAULT 1
);


--
-- Name: TABLE test_alert; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.test_alert IS 'Example CDS test alert language';


--
-- Name: COLUMN test_alert.id; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.test_alert.id IS 'A synthetic numerical ID, primary key';


--
-- Name: COLUMN test_alert.population; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.test_alert.population IS 'The population this test alert is applicable to: general, adult, pediatrics, unspecified';


--
-- Name: COLUMN test_alert.cdscontext; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.test_alert.cdscontext IS 'This should be either "Pre-test", "Post-test" or "No CDS". This field is non-null';


--
-- Name: COLUMN test_alert.genes; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.test_alert.genes IS 'One or more genes this test alert uses for trigger conditions';


--
-- Name: COLUMN test_alert.phenotype; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.test_alert.phenotype IS 'A JSON object of gene symbol keys to phenotype description';


--
-- Name: COLUMN test_alert.activityscore; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.test_alert.activityscore IS 'A JSON object of gene symbol keys to gene activity score';


--
-- Name: COLUMN test_alert.allelestatus; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.test_alert.allelestatus IS 'Whether or not an allele is present, used mainly for HLA genes. This is a JSON mapping of gene to allele status (positive/negative)';


--
-- Name: COLUMN test_alert.lookupkey; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.test_alert.lookupkey IS 'A key to use for finding a specific test alert. Made of a JSON object of gene symbol to key value. The key value can be one of phenotype, activity score, or allele status depending on the gene.';


--
-- Name: COLUMN test_alert.drugid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.test_alert.drugid IS 'The ID of a drug this alert text is for';


--
-- Name: COLUMN test_alert.alerttext; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.test_alert.alerttext IS 'An array of one or more pieces of alert text';


--
-- Name: test_alert_view; Type: VIEW; Schema: cpic; Owner: -
--

CREATE VIEW cpic.test_alert_view AS
 SELECT t.id AS testalertid,
    t.lookupkey,
    d.name AS drugname,
    t.population,
    t.alerttext,
    t.cdscontext
   FROM (cpic.test_alert t
     JOIN cpic.drug d ON (((t.drugid)::text = (d.drugid)::text)));


--
-- Name: VIEW test_alert_view; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON VIEW cpic.test_alert_view IS 'A view to help find test alert data when querying by the lookupKey';


--
-- Name: test_alert_lookup(text); Type: FUNCTION; Schema: cpic; Owner: -
--

CREATE FUNCTION cpic.test_alert_lookup(lookup text) RETURNS SETOF cpic.test_alert_view
    LANGUAGE sql STABLE SECURITY DEFINER
    AS $$
select * from cpic.test_alert_view where lookupkey <@ (
    select jsonb_object_agg(key, value) as lookupkey
    from (select lookupkey from cpic.diplotype where diplotypekey <@ lookup::jsonb) x,
        json_each(x.lookupkey)
)
$$;


--
-- Name: FUNCTION test_alert_lookup(lookup text); Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON FUNCTION cpic.test_alert_lookup(lookup text) IS 'This function helps translate diplotypes into test alert data. This relies on the test_alert_view to gather and filter relevant information. The lookup parameter is a JSON object of gene symbol to JSON allele representation.';


--
-- Name: allele; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.allele (
    id integer DEFAULT nextval('cpic.cpic_id'::regclass) NOT NULL,
    version integer DEFAULT 1,
    genesymbol character varying(50) NOT NULL,
    name text NOT NULL,
    functionalstatus text,
    clinicalfunctionalstatus text,
    clinicalfunctionalsubstrate text,
    activityvalue character varying(50),
    definitionid integer NOT NULL,
    citations text[],
    strength text,
    functioncomments text,
    findings text,
    frequency jsonb,
    inferredfrequency boolean DEFAULT false
);


--
-- Name: TABLE allele; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.allele IS 'An allele of a gene';


--
-- Name: COLUMN allele.id; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele.id IS 'A synthetic numerical ID, auto-assigned, primary key';


--
-- Name: COLUMN allele.version; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele.version IS 'The version number, iterates on modification';


--
-- Name: COLUMN allele.genesymbol; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele.genesymbol IS 'The HGNC symbol of the gene the allele is for, required';


--
-- Name: COLUMN allele.name; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele.name IS 'The name of this allele, required';


--
-- Name: COLUMN allele.functionalstatus; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele.functionalstatus IS 'The functional phenotype of this allele';


--
-- Name: COLUMN allele.clinicalfunctionalstatus; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele.clinicalfunctionalstatus IS 'The functional phenotype of this allele used for clinical systems';


--
-- Name: COLUMN allele.clinicalfunctionalsubstrate; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele.clinicalfunctionalsubstrate IS 'Allele clinical function substrate specificity, optional';


--
-- Name: COLUMN allele.activityvalue; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele.activityvalue IS 'Descriptor of activity score, optional';


--
-- Name: COLUMN allele.definitionid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele.definitionid IS 'The reference to the definition for this allele';


--
-- Name: COLUMN allele.citations; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele.citations IS 'An array of PubMed IDs use as citations for this functional assignment';


--
-- Name: COLUMN allele.strength; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele.strength IS 'The strength of evidence';


--
-- Name: COLUMN allele.functioncomments; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele.functioncomments IS 'Comments this functional assignment of this allele';


--
-- Name: COLUMN allele.inferredfrequency; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele.inferredfrequency IS 'Indicates (with "true") that the frequencies for this allele have been inferred by an algorithm that aggregates the frequencies for other alleles of this gene and is not based on direct data, defaults to false, should only be 1 per gene';


--
-- Name: allele_definition; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.allele_definition (
    id integer DEFAULT nextval('cpic.cpic_id'::regclass) NOT NULL,
    version integer DEFAULT 1,
    genesymbol character varying(50) NOT NULL,
    name text NOT NULL,
    pharmvarid character varying(50),
    matchesreferencesequence boolean DEFAULT false,
    structuralvariation boolean DEFAULT false
);


--
-- Name: TABLE allele_definition; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.allele_definition IS 'The definition for an allele of a gene';


--
-- Name: COLUMN allele_definition.id; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_definition.id IS 'A synthetic numerical ID, auto-assigned, primary key';


--
-- Name: COLUMN allele_definition.genesymbol; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_definition.genesymbol IS 'The HGNC symbol of the gene the allele is for, required';


--
-- Name: COLUMN allele_definition.name; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_definition.name IS 'The name of this allele, required';


--
-- Name: COLUMN allele_definition.pharmvarid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_definition.pharmvarid IS 'The PharmVar core allele ID for this allele';


--
-- Name: COLUMN allele_definition.matchesreferencesequence; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_definition.matchesreferencesequence IS 'Indicates (with "true") the variants that define the named allele will match the reference sequence for the gene, defaults to false, should only be 1 per gene';


--
-- Name: COLUMN allele_definition.structuralvariation; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_definition.structuralvariation IS 'Indicates whether this allele definition is a structural variant, default is false. If true, look in the pharmvarid field for the PharmVar ID that defines the structural variation.';


--
-- Name: allele_frequency; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.allele_frequency (
    alleleid integer NOT NULL,
    population integer NOT NULL,
    frequency numeric,
    label text,
    version integer DEFAULT 1
);


--
-- Name: TABLE allele_frequency; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.allele_frequency IS 'A frequency observation for a particular allele in a particular population';


--
-- Name: COLUMN allele_frequency.alleleid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_frequency.alleleid IS 'The ID of the allele for this observation';


--
-- Name: COLUMN allele_frequency.population; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_frequency.population IS 'The ID of the population for this observation';


--
-- Name: COLUMN allele_frequency.frequency; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_frequency.frequency IS 'The numeric representation of this frequency';


--
-- Name: COLUMN allele_frequency.label; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_frequency.label IS 'The textual label for this frequency, "-" means no observation made';


--
-- Name: COLUMN allele_frequency.version; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_frequency.version IS 'The version number, iterates on modification';


--
-- Name: pair; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.pair (
    pairid integer DEFAULT nextval('cpic.cpic_id'::regclass) NOT NULL,
    genesymbol character varying(20),
    drugid character varying(20),
    guidelineid integer,
    usedforrecommendation boolean DEFAULT false,
    version integer DEFAULT 1,
    cpiclevel character varying(5) NOT NULL,
    pgkbcalevel character varying(5),
    pgxtesting text,
    citations text[],
    removed boolean DEFAULT false,
    removeddate date,
    removedreason text,
    CONSTRAINT valid_cpiclevel_check CHECK (((cpiclevel)::text = ANY (ARRAY[('A'::character varying)::text, ('A/B'::character varying)::text, ('B'::character varying)::text, ('B/C'::character varying)::text, ('C'::character varying)::text, ('C/D'::character varying)::text, ('D'::character varying)::text]))),
    CONSTRAINT valid_pgkblevel_check CHECK (((pgkbcalevel)::text = ANY (ARRAY[('1A'::character varying)::text, ('1B'::character varying)::text, ('2A'::character varying)::text, ('2B'::character varying)::text, ('3'::character varying)::text, ('4'::character varying)::text]))),
    CONSTRAINT valid_pmids CHECK ((array_to_string(citations, ''::text) ~ '\d+'::text)),
    CONSTRAINT valid_used_check CHECK (((NOT usedforrecommendation) OR (guidelineid IS NOT NULL)))
);


--
-- Name: TABLE pair; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.pair IS 'A pair of a gene and a drug that is notable to CPIC';


--
-- Name: COLUMN pair.pairid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair.pairid IS 'A synthetic numerical id, automatically assigned, primary key';


--
-- Name: COLUMN pair.genesymbol; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair.genesymbol IS 'The HGNC symbol of the gene in this pair, required';


--
-- Name: COLUMN pair.drugid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair.drugid IS 'The ID of the drug in this pair, required';


--
-- Name: COLUMN pair.guidelineid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair.guidelineid IS 'The ID of a guideline this pair is described in, optional';


--
-- Name: COLUMN pair.usedforrecommendation; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair.usedforrecommendation IS 'Whether the gene is used for recommendation lookup for the drug if this pair is part of a guideline, default false';


--
-- Name: COLUMN pair.version; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair.version IS 'The version number, iterates on modification';


--
-- Name: COLUMN pair.cpiclevel; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair.cpiclevel IS 'The CPIC level of this pair, required';


--
-- Name: COLUMN pair.pgkbcalevel; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair.pgkbcalevel IS 'The top level of PharmGKB Clinical Annotation for this pair, optional';


--
-- Name: COLUMN pair.pgxtesting; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair.pgxtesting IS 'The top level of PGx testing recommendation from PharmGKB label annotations, optional';


--
-- Name: COLUMN pair.citations; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair.citations IS 'The PMID citations in an array for this pair, optional';


--
-- Name: COLUMN pair.removed; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair.removed IS 'Has this pair been "removed", eg is no longer a valid pair, default false';


--
-- Name: COLUMN pair.removeddate; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair.removeddate IS 'If removed, when was this pair "removed"';


--
-- Name: COLUMN pair.removedreason; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair.removedreason IS 'If removed, why was this pair "removed"';


--
-- Name: allele_guideline_view; Type: VIEW; Schema: cpic; Owner: -
--

CREATE VIEW cpic.allele_guideline_view AS
 SELECT DISTINCT a.genesymbol,
    a.name AS allele_name,
    g.name AS guideline_name,
    g.url AS guideline_url
   FROM ((cpic.allele a
     JOIN cpic.pair p ON (((a.genesymbol)::text = (p.genesymbol)::text)))
     JOIN cpic.guideline g ON ((g.id = p.guidelineid)))
  WHERE (a.clinicalfunctionalstatus IS NOT NULL);


--
-- Name: VIEW allele_guideline_view; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON VIEW cpic.allele_guideline_view IS 'A combination of alleles and the guidelines they appear in';


--
-- Name: COLUMN allele_guideline_view.genesymbol; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_guideline_view.genesymbol IS 'The HGNC symbol of the gene';


--
-- Name: COLUMN allele_guideline_view.allele_name; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_guideline_view.allele_name IS 'The name of the allele';


--
-- Name: COLUMN allele_guideline_view.guideline_name; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_guideline_view.guideline_name IS 'The name of the guideline this allele appears in';


--
-- Name: COLUMN allele_guideline_view.guideline_url; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_guideline_view.guideline_url IS 'The URL to the guideline';


--
-- Name: allele_location_value; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.allele_location_value (
    alleledefinitionid integer NOT NULL,
    locationid integer NOT NULL,
    variantallele text NOT NULL,
    version integer DEFAULT 1
);


--
-- Name: TABLE allele_location_value; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.allele_location_value IS 'The change at a specific location for a specific allele';


--
-- Name: COLUMN allele_location_value.alleledefinitionid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_location_value.alleledefinitionid IS 'The reference to the allele this variant is on';


--
-- Name: COLUMN allele_location_value.locationid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_location_value.locationid IS 'The reference to the location this variant is for';


--
-- Name: COLUMN allele_location_value.variantallele; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_location_value.variantallele IS 'The allele of this location for the allele';


--
-- Name: COLUMN allele_location_value.version; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.allele_location_value.version IS 'The version number, iterates on modification';


--
-- Name: change_log; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.change_log (
    date date NOT NULL,
    type text NOT NULL,
    entityid text,
    note text NOT NULL,
    version integer DEFAULT 1,
    deployedrelease text
);


--
-- Name: TABLE change_log; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.change_log IS 'A dated freeform text description of a change made to a type of information and optionally for a specific entity';


--
-- Name: COLUMN change_log.date; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.change_log.date IS 'The date the log note is applicable';


--
-- Name: COLUMN change_log.type; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.change_log.type IS 'The type of data this log message is about';


--
-- Name: COLUMN change_log.entityid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.change_log.entityid IS 'Optional, the specific entity this note is about. For example, could be a gene symbol or drug ID';


--
-- Name: COLUMN change_log.note; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.change_log.note IS 'The freeform text note about what the change was';


--
-- Name: COLUMN change_log.version; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.change_log.version IS 'The version number, iterates on modification';


--
-- Name: COLUMN change_log.deployedrelease; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.change_log.deployedrelease IS 'The release this change was deployed with';


--
-- Name: gene; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.gene (
    symbol character varying(20) NOT NULL,
    chr character varying(20),
    genesequenceid text,
    proteinsequenceid text,
    chromosequenceid text,
    mrnasequenceid text,
    hgncid text,
    ncbiid text,
    ensemblid text,
    pharmgkbid text,
    frequencymethods text,
    lookupmethod text DEFAULT 'PHENOTYPE'::text,
    version integer DEFAULT 1,
    notesondiplotype text,
    url text,
    functionmethods text,
    notesonallelenaming text,
    includephenotypefrequencies boolean DEFAULT true NOT NULL,
    includediplotypefrequencies boolean DEFAULT true NOT NULL,
    CONSTRAINT gene_chr_check CHECK (((chr)::text ~ '^chr\S+$'::text)),
    CONSTRAINT gene_chromosequenceid_check CHECK ((chromosequenceid ~ '^(NC_\S+)?$'::text)),
    CONSTRAINT gene_ensemblid_check CHECK ((ensemblid ~ '^(ENSG\d+)?$'::text)),
    CONSTRAINT gene_genesequenceid_check CHECK ((genesequenceid ~ '^(NG_\S+)?$'::text)),
    CONSTRAINT gene_hgncid_check CHECK ((hgncid ~ '^(HGNC:\d+)?$'::text)),
    CONSTRAINT gene_mrnasequenceid_check CHECK ((mrnasequenceid ~ '^(NM_\S+)?$'::text)),
    CONSTRAINT gene_pharmgkbid_check CHECK ((pharmgkbid ~ '^(PA\d+)?$'::text)),
    CONSTRAINT gene_proteinsequenceid_check CHECK ((proteinsequenceid ~ '^(NP_\S+)?$'::text))
);


--
-- Name: TABLE gene; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.gene IS 'Gene information with a primary key of the approved HGNC symbol for the gene. This means any gene used in the table must be approved by HGNC.';


--
-- Name: COLUMN gene.symbol; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene.symbol IS 'Approved HGNC symbol, primary key.';


--
-- Name: COLUMN gene.chr; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene.chr IS 'Chromosome symbol. In the form chr##, where ## is the number or X/Y.';


--
-- Name: COLUMN gene.genesequenceid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene.genesequenceid IS 'The RefSeq ID for the sequence that represents this gene, starts with "NG_". No version suffix.';


--
-- Name: COLUMN gene.proteinsequenceid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene.proteinsequenceid IS 'The RefSeq ID for the sequence that represents the protein product of this gene, starts with "NP_". No version suffix.';


--
-- Name: COLUMN gene.chromosequenceid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene.chromosequenceid IS 'The RefSeq ID for the sequence that represents the chromosome this gene is on, starts with "NC_". No version suffix.';


--
-- Name: COLUMN gene.mrnasequenceid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene.mrnasequenceid IS 'The RefSeq ID for the sequence that represents the translation of this gene, starts with "NM_". No version suffix.';


--
-- Name: COLUMN gene.hgncid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene.hgncid IS 'The HGNC numerical ID number for this gene prefixed by "HGNC:"';


--
-- Name: COLUMN gene.ncbiid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene.ncbiid IS 'The NCBI Gene (Entrez) ID number for this gene';


--
-- Name: COLUMN gene.ensemblid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene.ensemblid IS 'The Ensembl ID for this gene';


--
-- Name: COLUMN gene.pharmgkbid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene.pharmgkbid IS 'The ID for this gene in PharmGKB.';


--
-- Name: COLUMN gene.frequencymethods; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene.frequencymethods IS 'Text documentation of the methods and caveats for allele frequency data';


--
-- Name: COLUMN gene.lookupmethod; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene.lookupmethod IS 'The way to lookup information about diplotypes of this gene, should use ACTIVITY_SCORE, PHENOTYPE, or ALLELE_STATUS';


--
-- Name: COLUMN gene.notesondiplotype; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene.notesondiplotype IS 'Optional notes about the diplotypes of the gene';


--
-- Name: COLUMN gene.includephenotypefrequencies; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene.includephenotypefrequencies IS 'if allele frequencies exist for this gene, whether to calculate and display phenotype-level frequencies. a true value does not imply existence frequency data';


--
-- Name: COLUMN gene.includediplotypefrequencies; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene.includediplotypefrequencies IS 'if allele frequencies exist for this gene, whether to calculate and display diplotype-level frequencies. a true value does not imply existence frequency data';


--
-- Name: change_log_view; Type: VIEW; Schema: cpic; Owner: -
--

CREATE VIEW cpic.change_log_view AS
 WITH x AS (
         SELECT gene.symbol AS entityid,
            gene.symbol AS entityname
           FROM cpic.gene
        UNION ALL
         SELECT drug.drugid AS entityid,
            drug.name AS entityname
           FROM cpic.drug
        )
 SELECT l.date,
    l.type,
    x.entityname,
    l.note,
    l.deployedrelease
   FROM (cpic.change_log l
     LEFT JOIN x ON ((l.entityid = (x.entityid)::text)));


--
-- Name: VIEW change_log_view; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON VIEW cpic.change_log_view IS 'This view of the change_log table add the entity name to make it more readable';


--
-- Name: gene_result; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.gene_result (
    id integer DEFAULT nextval('cpic.cpic_id'::regclass) NOT NULL,
    genesymbol character varying(50) NOT NULL,
    result text NOT NULL,
    activityscore text,
    ehrpriority text,
    consultationtext text,
    version integer DEFAULT 1,
    frequency jsonb
);


--
-- Name: TABLE gene_result; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.gene_result IS 'Possible phenotype values for a gene. The gene + phenotype + activity score should be unique.';


--
-- Name: COLUMN gene_result.id; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result.id IS 'A synthetic numerical ID, auto-assigned, primary key';


--
-- Name: COLUMN gene_result.genesymbol; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result.genesymbol IS 'The HGNC symbol of the gene in this pair, required';


--
-- Name: COLUMN gene_result.result; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result.result IS 'The result for a gene, can either be a phenotype or "allele status" depending on the lookup method for the gene (see lookupMethod in gene table), required';


--
-- Name: COLUMN gene_result.activityscore; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result.activityscore IS 'Activity score, optional';


--
-- Name: COLUMN gene_result.ehrpriority; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result.ehrpriority IS 'EHR Priority Result, optional';


--
-- Name: COLUMN gene_result.consultationtext; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result.consultationtext IS 'Consultation (Interpretation) Text Provided with Test Result';


--
-- Name: COLUMN gene_result.frequency; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result.frequency IS 'JSON map of frequencies for this gene result with keys being biogeographical groups';


--
-- Name: gene_result_diplotype; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.gene_result_diplotype (
    id integer DEFAULT nextval('cpic.cpic_id'::regclass) NOT NULL,
    functionphenotypeid integer NOT NULL,
    diplotype text NOT NULL,
    diplotypekey jsonb NOT NULL,
    frequency jsonb
);


--
-- Name: TABLE gene_result_diplotype; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.gene_result_diplotype IS 'Specific diplotypes that are associated with a gene result. This table is a child of gene_result_lookup and distantly of gene_result';


--
-- Name: COLUMN gene_result_diplotype.id; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result_diplotype.id IS 'A synthetic numerical ID, auto-assigned, primary key';


--
-- Name: COLUMN gene_result_diplotype.functionphenotypeid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result_diplotype.functionphenotypeid IS 'An ID referencing a gene_result_lookup record, required';


--
-- Name: COLUMN gene_result_diplotype.diplotype; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result_diplotype.diplotype IS 'A diplotype for the gene in the form Allele1/Allele2, required';


--
-- Name: COLUMN gene_result_diplotype.diplotypekey; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result_diplotype.diplotypekey IS 'A normalized JSON version of the diplotype for use in lookups. Should be an object with the allele names as properties and the counts as the values. Required';


--
-- Name: gene_result_lookup; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.gene_result_lookup (
    id integer DEFAULT nextval('cpic.cpic_id'::regclass) NOT NULL,
    phenotypeid integer NOT NULL,
    lookupkey jsonb NOT NULL,
    function1 text,
    function2 text,
    activityvalue1 text,
    activityvalue2 text,
    totalactivityscore text,
    description text
);


--
-- Name: TABLE gene_result_lookup; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.gene_result_lookup IS 'Gene descriptions that, when combined, link to a gene result. This table is a child of gene_result.';


--
-- Name: COLUMN gene_result_lookup.id; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result_lookup.id IS 'A synthetic numerical ID, auto-assigned, primary key';


--
-- Name: COLUMN gene_result_lookup.phenotypeid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result_lookup.phenotypeid IS 'An ID referencing the gene_result this is associated with, required';


--
-- Name: COLUMN gene_result_lookup.lookupkey; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result_lookup.lookupkey IS 'A normalized JSON format of the data used to lookup a diplotype. The keys of this field are either the functions, activity scores, or allele statuses depending on what the gene requires. Required.';


--
-- Name: COLUMN gene_result_lookup.function1; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result_lookup.function1 IS 'The first allele function';


--
-- Name: COLUMN gene_result_lookup.function2; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result_lookup.function2 IS 'The second allele function';


--
-- Name: COLUMN gene_result_lookup.activityvalue1; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result_lookup.activityvalue1 IS 'The activity score for the first allele function';


--
-- Name: COLUMN gene_result_lookup.activityvalue2; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result_lookup.activityvalue2 IS 'The activity score for the second allele function';


--
-- Name: COLUMN gene_result_lookup.totalactivityscore; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result_lookup.totalactivityscore IS 'The sum activity score for the functions';


--
-- Name: COLUMN gene_result_lookup.description; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.gene_result_lookup.description IS 'A description of the diplotypes associated with this phenotype';


--
-- Name: diplotype; Type: VIEW; Schema: cpic; Owner: -
--

CREATE VIEW cpic.diplotype AS
 SELECT gp.genesymbol,
    d.diplotype,
    pf.function1,
    pf.function2,
    pf.activityvalue1,
    pf.activityvalue2,
    pf.totalactivityscore,
    pf.description,
    d.diplotypekey,
    gp.result AS generesult,
    gp.ehrpriority,
    gp.consultationtext,
    json_build_object(gp.genesymbol,
        CASE
            WHEN (g.lookupmethod = 'ACTIVITY_SCORE'::text) THEN pf.totalactivityscore
            ELSE gp.result
        END) AS lookupkey
   FROM (((cpic.gene_result_diplotype d
     JOIN cpic.gene_result_lookup pf ON ((d.functionphenotypeid = pf.id)))
     JOIN cpic.gene_result gp ON ((pf.phenotypeid = gp.id)))
     JOIN cpic.gene g ON (((gp.genesymbol)::text = (g.symbol)::text)));


--
-- Name: VIEW diplotype; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON VIEW cpic.diplotype IS 'A combination of gene_result and gene_result_diplotype that allows you to easily query by diplotype and see the phenotype-related data for it';


--
-- Name: COLUMN diplotype.genesymbol; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.diplotype.genesymbol IS 'The HGNC symbol of the gene in this pair, required';


--
-- Name: COLUMN diplotype.diplotype; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.diplotype.diplotype IS 'A diplotype for the gene in the form Allele1/Allele2, required';


--
-- Name: COLUMN diplotype.function1; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.diplotype.function1 IS 'A functional assignment of one of the alleles, optional';


--
-- Name: COLUMN diplotype.function2; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.diplotype.function2 IS 'A functional assignment of one of the alleles, optional';


--
-- Name: COLUMN diplotype.activityvalue1; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.diplotype.activityvalue1 IS 'An activity value assignment of one of the alleles, optional';


--
-- Name: COLUMN diplotype.activityvalue2; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.diplotype.activityvalue2 IS 'An activity value assignment of one of the alleles, optional';


--
-- Name: COLUMN diplotype.totalactivityscore; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.diplotype.totalactivityscore IS 'The total Activity Score number, optional';


--
-- Name: COLUMN diplotype.description; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.diplotype.description IS 'The long-form description of the diplotype';


--
-- Name: COLUMN diplotype.diplotypekey; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.diplotype.diplotypekey IS 'A normalized version of the diplotype that can be used for DB lookups';


--
-- Name: COLUMN diplotype.generesult; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.diplotype.generesult IS 'The result for a gene, can either be a phenotype or "allele status" depending on the lookup method for the gene (see lookupMethod in gene table), required';


--
-- Name: COLUMN diplotype.lookupkey; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.diplotype.lookupkey IS 'A normalized version of the gene phenotype that can be used for recommendation or test alert lookup';


--
-- Name: data_progress; Type: VIEW; Schema: cpic; Owner: -
--

CREATE VIEW cpic.data_progress AS
 SELECT 'Gene'::text AS object_class,
    'Allele Definition Data'::text AS data_type,
    allele_definition.genesymbol AS object_name,
    count(*) AS n
   FROM cpic.allele_definition
  GROUP BY allele_definition.genesymbol
UNION ALL
 SELECT 'Gene'::text AS object_class,
    'Allele Functionality Data'::text AS data_type,
    a.genesymbol AS object_name,
    count(*) AS n
   FROM cpic.allele a
  WHERE (a.clinicalfunctionalstatus IS NOT NULL)
  GROUP BY a.genesymbol
UNION ALL
 SELECT 'Gene'::text AS object_class,
    'Diplotype to Phenotype Data'::text AS data_type,
    diplotype.genesymbol AS object_name,
    count(*) AS n
   FROM cpic.diplotype
  GROUP BY diplotype.genesymbol
UNION ALL
 SELECT 'Gene'::text AS object_class,
    'Frequency Data'::text AS data_type,
    a.genesymbol AS object_name,
    count(*) AS n
   FROM (cpic.allele_frequency f
     JOIN cpic.allele a ON ((f.alleleid = a.id)))
  GROUP BY a.genesymbol
UNION ALL
 SELECT 'Gene'::text AS object_class,
    'Gene CDS Data'::text AS data_type,
    gene_result.genesymbol AS object_name,
    count(*) AS n
   FROM cpic.gene_result
  WHERE (gene_result.consultationtext IS NOT NULL)
  GROUP BY gene_result.genesymbol
UNION ALL
 SELECT 'Gene'::text AS object_class,
    'Gene Phenotype Data'::text AS data_type,
    g.genesymbol AS object_name,
    count(*) AS n
   FROM (cpic.gene_result g
     JOIN cpic.gene_result_lookup pf ON ((g.id = pf.phenotypeid)))
  GROUP BY g.genesymbol
UNION ALL
 SELECT 'Gene'::text AS object_class,
    'PharmVar Allele IDs'::text AS data_type,
    a.genesymbol AS object_name,
    count(*) AS n
   FROM cpic.allele_definition a
  WHERE (a.pharmvarid IS NOT NULL)
  GROUP BY a.genesymbol
UNION ALL
 SELECT 'Drug'::text AS object_class,
    'Flowcharts'::text AS data_type,
    drug.name AS object_name,
    count(*) AS n
   FROM cpic.drug
  WHERE (drug.flowchart IS NOT NULL)
  GROUP BY drug.name
UNION ALL
 SELECT 'Drug'::text AS object_class,
    'Table 2 Recommendations'::text AS data_type,
    d.name AS object_name,
    count(DISTINCT r.id) AS n
   FROM (cpic.recommendation r
     JOIN cpic.drug d ON (((r.drugid)::text = (d.drugid)::text)))
  GROUP BY d.name
UNION ALL
 SELECT 'Drug'::text AS object_class,
    'Drug Test Alerts'::text AS data_type,
    d.name AS object_name,
    count(DISTINCT t.id) AS n
   FROM (cpic.test_alert t
     JOIN cpic.drug d ON (((t.drugid)::text = (d.drugid)::text)))
  GROUP BY d.name
UNION ALL
 SELECT 'Drug'::text AS object_class,
    'Guideline'::text AS data_type,
    d.name AS object_name,
    count(DISTINCT g.id) AS n
   FROM ((cpic.guideline g
     JOIN cpic.pair p ON ((g.id = p.guidelineid)))
     JOIN cpic.drug d ON (((p.drugid)::text = (d.drugid)::text)))
  GROUP BY d.name;


--
-- Name: file_artifact; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.file_artifact (
    id integer DEFAULT nextval('cpic.cpic_id'::regclass) NOT NULL,
    entityids text[],
    type text NOT NULL,
    filename text NOT NULL,
    url text
);


--
-- Name: TABLE file_artifact; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.file_artifact IS 'File artifact information. Each entry is a different file artifact generated by the system';


--
-- Name: COLUMN file_artifact.id; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.file_artifact.id IS 'A synthetic numerical ID, auto-assigned, primary key';


--
-- Name: COLUMN file_artifact.entityids; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.file_artifact.entityids IS 'The IDs of the entities the file is for, required';


--
-- Name: COLUMN file_artifact.type; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.file_artifact.type IS 'The type of file';


--
-- Name: COLUMN file_artifact.filename; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.file_artifact.filename IS 'The name of the file (no path)';


--
-- Name: COLUMN file_artifact.url; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.file_artifact.url IS 'The permanent URL of the current version of this file';


--
-- Name: file_artifact_history; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.file_artifact_history (
    id integer DEFAULT nextval('cpic.cpic_id'::regclass) NOT NULL,
    fileid integer NOT NULL,
    source text NOT NULL,
    changedate timestamp without time zone DEFAULT CURRENT_TIMESTAMP NOT NULL,
    changemessage text
);


--
-- Name: TABLE file_artifact_history; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.file_artifact_history IS 'History information for a related file artifact';


--
-- Name: COLUMN file_artifact_history.id; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.file_artifact_history.id IS 'A synthetic numerical ID, auto-assigned, primary key';


--
-- Name: COLUMN file_artifact_history.fileid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.file_artifact_history.fileid IS 'The ID of the related File Artifact';


--
-- Name: COLUMN file_artifact_history.source; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.file_artifact_history.source IS 'Where this history message originated from';


--
-- Name: COLUMN file_artifact_history.changedate; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.file_artifact_history.changedate IS 'The date the change was applied';


--
-- Name: COLUMN file_artifact_history.changemessage; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.file_artifact_history.changemessage IS 'A message describing the change that occurred';


--
-- Name: file_note; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.file_note (
    type text NOT NULL,
    entityid text,
    note text NOT NULL,
    ordinal integer NOT NULL,
    version integer DEFAULT 1
);


--
-- Name: TABLE file_note; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.file_note IS 'An ordered note that should appear with the type of information specified';


--
-- Name: COLUMN file_note.type; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.file_note.type IS 'The type of information this note is about';


--
-- Name: COLUMN file_note.entityid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.file_note.entityid IS 'Optional, the specific entity this note is about. For example, could be a gene symbol or drug ID';


--
-- Name: COLUMN file_note.note; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.file_note.note IS 'The freeform text note about the type/entity';


--
-- Name: COLUMN file_note.ordinal; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.file_note.ordinal IS 'The index number for ordering notes of a given type/entity';


--
-- Name: COLUMN file_note.version; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.file_note.version IS 'The version number, iterates on modification';


--
-- Name: file_status; Type: VIEW; Schema: cpic; Owner: -
--

CREATE VIEW cpic.file_status AS
 SELECT a.id,
    a.entityids,
    a.type,
    a.filename,
    a.url,
    history.latest_change
   FROM (cpic.file_artifact a
     LEFT JOIN ( SELECT h.fileid,
            max(h.changedate) AS latest_change
           FROM cpic.file_artifact_history h
          GROUP BY h.fileid) history ON ((a.id = history.fileid)))
  ORDER BY a.type, a.filename;


--
-- Name: flyway_schema_history; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.flyway_schema_history (
    installed_rank integer NOT NULL,
    version character varying(50),
    description character varying(200) NOT NULL,
    type character varying(20) NOT NULL,
    script character varying(1000) NOT NULL,
    checksum integer,
    installed_by character varying(100) NOT NULL,
    installed_on timestamp without time zone DEFAULT now() NOT NULL,
    execution_time integer NOT NULL,
    success boolean NOT NULL
);


--
-- Name: guideline_summary_view; Type: VIEW; Schema: cpic; Owner: -
--

CREATE VIEW cpic.guideline_summary_view AS
 SELECT g.name AS guideline_name,
    g.url AS guideline_url,
    array_agg(DISTINCT d.name) AS drugs,
    jsonb_agg(DISTINCT jsonb_build_object('symbol', p.genesymbol, 'url', (('https://cpicpgx.org/gene/'::text || lower((p.genesymbol)::text)) || '/'::text))) AS genes
   FROM ((cpic.guideline g
     JOIN cpic.pair p ON ((g.id = p.guidelineid)))
     JOIN cpic.drug d ON (((p.drugid)::text = (d.drugid)::text)))
  GROUP BY g.name, g.url;


--
-- Name: VIEW guideline_summary_view; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON VIEW cpic.guideline_summary_view IS 'This view lists guidelines and the genes and drugs that are associated with them';


--
-- Name: COLUMN guideline_summary_view.guideline_name; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.guideline_summary_view.guideline_name IS 'The title of the guideline';


--
-- Name: COLUMN guideline_summary_view.guideline_url; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.guideline_summary_view.guideline_url IS 'The URL of the guideline on the CPIC website';


--
-- Name: COLUMN guideline_summary_view.drugs; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.guideline_summary_view.drugs IS 'An array of drug names associated with this guideline';


--
-- Name: COLUMN guideline_summary_view.genes; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.guideline_summary_view.genes IS 'An array of gene data associated with this guideline, each object will have a symbol and a URL for the gene on the CPIC website';


--
-- Name: pair_view; Type: VIEW; Schema: cpic; Owner: -
--

CREATE VIEW cpic.pair_view AS
 SELECT p.pairid,
    p.drugid,
    d.name AS drugname,
    p.genesymbol,
    g.name AS guidelinename,
    g.url AS guidelineurl,
    p.cpiclevel,
    p.pgkbcalevel,
    p.pgxtesting,
    p.citations AS pmids,
        CASE
            WHEN (p.usedforrecommendation AND (p.guidelineid IS NOT NULL)) THEN 'Yes'::text
            WHEN ((NOT p.usedforrecommendation) AND (p.guidelineid IS NOT NULL)) THEN 'No'::text
            ELSE 'n/a'::text
        END AS usedforrecommendation,
        CASE
            WHEN (p.guidelineid IS NULL) THEN true
            ELSE false
        END AS provisional
   FROM ((cpic.pair p
     JOIN cpic.drug d ON (((p.drugid)::text = (d.drugid)::text)))
     LEFT JOIN cpic.guideline g ON ((p.guidelineid = g.id)))
  WHERE (p.removed IS FALSE);


--
-- Name: VIEW pair_view; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON VIEW cpic.pair_view IS 'This pairs view combines information from the pair, drug, and guideline tables to make a more readable view of pair data. This also limits result to pairs which have NOT been removed.';


--
-- Name: COLUMN pair_view.pairid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair_view.pairid IS 'The primary key ID of this pair';


--
-- Name: COLUMN pair_view.drugid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair_view.drugid IS 'The ID of the drug in the pair';


--
-- Name: COLUMN pair_view.drugname; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair_view.drugname IS 'The name of the drug in the pair';


--
-- Name: COLUMN pair_view.genesymbol; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair_view.genesymbol IS 'The symbol of the drug in the pair';


--
-- Name: COLUMN pair_view.guidelinename; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair_view.guidelinename IS 'The name for the guideline of this pair';


--
-- Name: COLUMN pair_view.guidelineurl; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair_view.guidelineurl IS 'The URL for the guideline of this pair';


--
-- Name: COLUMN pair_view.cpiclevel; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair_view.cpiclevel IS 'The CPIC-assigned level of the pair';


--
-- Name: COLUMN pair_view.pgkbcalevel; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair_view.pgkbcalevel IS 'The top level of PharmGKB Clinical Annotation of the pair';


--
-- Name: COLUMN pair_view.pgxtesting; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair_view.pgxtesting IS 'The testing level of the label annotation from PharmGKB for this pair';


--
-- Name: COLUMN pair_view.pmids; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair_view.pmids IS 'The PMIDs for guideline publications of this pair';


--
-- Name: COLUMN pair_view.provisional; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.pair_view.provisional IS 'The CPIC level assigned to this pair is provisional, true if this pair is not part of a guideline';


--
-- Name: population; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.population (
    id integer DEFAULT nextval('cpic.cpic_id'::regclass) NOT NULL,
    publicationid integer,
    ethnicity text NOT NULL,
    population text,
    populationinfo text,
    subjecttype text,
    subjectcount integer DEFAULT 0,
    version integer DEFAULT 1
);


--
-- Name: TABLE population; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.population IS 'A population description of a group of subjects';


--
-- Name: COLUMN population.id; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.population.id IS 'A synthetic primary key ID';


--
-- Name: COLUMN population.publicationid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.population.publicationid IS 'A reference to a publication';


--
-- Name: COLUMN population.ethnicity; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.population.ethnicity IS 'The major ethnicity grouping of this population';


--
-- Name: COLUMN population.population; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.population.population IS 'The descriptive name of this population, optional';


--
-- Name: COLUMN population.populationinfo; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.population.populationinfo IS 'Further information about this population, optional';


--
-- Name: COLUMN population.subjecttype; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.population.subjecttype IS 'Information about the types of subjects in this population';


--
-- Name: COLUMN population.subjectcount; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.population.subjectcount IS 'The total number of subjects in this population';


--
-- Name: COLUMN population.version; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.population.version IS 'The version number, iterates on modification';


--
-- Name: population_frequency_view; Type: VIEW; Schema: cpic; Owner: -
--

CREATE VIEW cpic.population_frequency_view AS
 WITH x AS (
         SELECT a.id AS alleleid,
            a.genesymbol,
            a.name,
            f.key AS population_group,
                CASE
                    WHEN (jsonb_typeof(f.value) = 'null'::text) THEN NULL::numeric
                    ELSE (f.value)::numeric
                END AS freq_weighted_avg
           FROM (cpic.allele a
             CROSS JOIN LATERAL jsonb_each(a.frequency) f(key, value))
        ), y AS (
         SELECT f.alleleid,
            p.ethnicity,
            max(f.frequency) AS freq_max,
            min(f.frequency) AS freq_min,
            avg(f.frequency) AS freq_avg,
            sum(p.subjectcount) AS subjectcount
           FROM (cpic.population p
             JOIN cpic.allele_frequency f ON ((p.id = f.population)))
          GROUP BY f.alleleid, p.ethnicity
        )
 SELECT x.genesymbol,
    x.name,
    x.population_group,
    y.subjectcount,
    x.freq_weighted_avg,
    y.freq_avg,
    y.freq_max,
    y.freq_min
   FROM (x
     JOIN y ON (((x.alleleid = y.alleleid) AND (x.population_group = y.ethnicity))));


--
-- Name: VIEW population_frequency_view; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON VIEW cpic.population_frequency_view IS 'A summary of frequency data by allele and major population group';


--
-- Name: COLUMN population_frequency_view.genesymbol; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.population_frequency_view.genesymbol IS 'The HGNC symbol of the gene';


--
-- Name: COLUMN population_frequency_view.name; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.population_frequency_view.name IS 'The allele name';


--
-- Name: COLUMN population_frequency_view.population_group; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.population_frequency_view.population_group IS 'The major grouping of population';


--
-- Name: COLUMN population_frequency_view.subjectcount; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.population_frequency_view.subjectcount IS 'The count of subjects assigned the population group for the given allele';


--
-- Name: COLUMN population_frequency_view.freq_weighted_avg; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.population_frequency_view.freq_weighted_avg IS 'The average frequency weighted by total subjects';


--
-- Name: COLUMN population_frequency_view.freq_avg; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.population_frequency_view.freq_avg IS 'The unweighted average frequency (use with caution)';


--
-- Name: COLUMN population_frequency_view.freq_max; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.population_frequency_view.freq_max IS 'The maximum frequency observed';


--
-- Name: COLUMN population_frequency_view.freq_min; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.population_frequency_view.freq_min IS 'The minimum frequency observed';


--
-- Name: publication; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.publication (
    id integer DEFAULT nextval('cpic.cpic_id'::regclass) NOT NULL,
    guidelineid integer,
    title text,
    authors text[],
    journal text,
    month integer,
    page character varying(50),
    volume character varying(50),
    year integer,
    pmid text,
    pmcid text,
    doi text,
    url text,
    version integer DEFAULT 1,
    highlightedonsite boolean DEFAULT false,
    fulltextfile text
);


--
-- Name: TABLE publication; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.publication IS 'Documents published to an external resource';


--
-- Name: COLUMN publication.id; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.publication.id IS 'A synthetic numerical ID, auto-assigned, primary key';


--
-- Name: COLUMN publication.guidelineid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.publication.guidelineid IS 'The ID for the guideline this publication is about, optional';


--
-- Name: COLUMN publication.pmid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.publication.pmid IS 'The PubMed identifier for this publication';


--
-- Name: COLUMN publication.pmcid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.publication.pmcid IS 'The PubMed Central identifier for this publication';


--
-- Name: COLUMN publication.doi; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.publication.doi IS 'The Document Object Identifier (DOI) for this publication';


--
-- Name: COLUMN publication.url; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.publication.url IS 'The URL for this publication';


--
-- Name: COLUMN publication.highlightedonsite; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.publication.highlightedonsite IS 'true means this publication will show in the CPIC site Publications page, defaults to false';


--
-- Name: COLUMN publication.fulltextfile; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.publication.fulltextfile IS 'publicly-accessible URL to full text of publication';


--
-- Name: publication_supplement; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.publication_supplement (
    id integer DEFAULT nextval('cpic.cpic_id'::regclass) NOT NULL,
    publicationid integer NOT NULL,
    description text,
    url text NOT NULL,
    version integer DEFAULT 1
);


--
-- Name: TABLE publication_supplement; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.publication_supplement IS 'A table to hold optional supplemental files for publications';


--
-- Name: COLUMN publication_supplement.id; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.publication_supplement.id IS 'A synthetic numerical ID, primary key';


--
-- Name: COLUMN publication_supplement.publicationid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.publication_supplement.publicationid IS 'A foreign-key reference to the publication this is a supplement for';


--
-- Name: COLUMN publication_supplement.description; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.publication_supplement.description IS 'An optional free text description of the supplemental file';


--
-- Name: COLUMN publication_supplement.url; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.publication_supplement.url IS 'The publicly-accessible URL to the supplemental file';


--
-- Name: COLUMN publication_supplement.version; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.publication_supplement.version IS 'The version number, iterates on modification';


--
-- Name: recommendation_alleles_view; Type: VIEW; Schema: cpic; Owner: -
--

CREATE VIEW cpic.recommendation_alleles_view AS
 SELECT a.genesymbol,
    g.chr,
    g.lookupmethod,
    array_agg(DISTINCT a.name ORDER BY a.name) AS alleles,
    count(DISTINCT a.name) AS allele_count
   FROM (cpic.allele a
     JOIN cpic.gene g ON (((a.genesymbol)::text = (g.symbol)::text)))
  WHERE ((a.clinicalfunctionalstatus IS NOT NULL) AND (g.lookupmethod <> 'ALLELE_STATUS'::text))
  GROUP BY a.genesymbol, g.chr, g.lookupmethod
UNION
 SELECT g.symbol AS genesymbol,
    g.chr,
    g.lookupmethod,
    array_agg(DISTINCT a.value ORDER BY a.value) AS alleles,
    count(DISTINCT a.value) AS allele_count
   FROM (cpic.recommendation r
     JOIN cpic.drug d ON (((r.drugid)::text = (d.drugid)::text))),
    (LATERAL jsonb_each_text(r.lookupkey) a(key, value)
     JOIN cpic.gene g ON ((a.key = (g.symbol)::text)))
  WHERE ((r.allelestatus IS NOT NULL) AND (g.lookupmethod = 'ALLELE_STATUS'::text) AND (upper(a.value) !~~ '%NO%RESULT%'::text))
  GROUP BY g.symbol, g.chr, g.lookupmethod;


--
-- Name: VIEW recommendation_alleles_view; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON VIEW cpic.recommendation_alleles_view IS 'A list of genes that are used for recommendation lookup and the alleles to use for those lookups';


--
-- Name: sequence_location; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.sequence_location (
    id integer DEFAULT nextval('cpic.cpic_id'::regclass) NOT NULL,
    version integer DEFAULT 1,
    name text,
    chromosomelocation text,
    genelocation text,
    proteinlocation text,
    genesymbol character varying(50) NOT NULL,
    dbsnpid text,
    "position" integer,
    CONSTRAINT chromosomelocation_nn CHECK ((chromosomelocation IS NOT NULL)),
    CONSTRAINT position_nn CHECK (("position" IS NOT NULL))
);


--
-- Name: TABLE sequence_location; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.sequence_location IS 'A location on a sequence';


--
-- Name: COLUMN sequence_location.name; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.sequence_location.name IS 'The short name of this sequence location, arbitrary but often the gene location and nucleotide change';


--
-- Name: COLUMN sequence_location.chromosomelocation; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.sequence_location.chromosomelocation IS 'The partial HGVS representation of the location on the chromosomal sequence';


--
-- Name: COLUMN sequence_location.genelocation; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.sequence_location.genelocation IS 'The partial HGVS representation of the location on the gene sequence';


--
-- Name: COLUMN sequence_location.proteinlocation; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.sequence_location.proteinlocation IS 'The partial HGVS representation of the location on the protein sequence';


--
-- Name: COLUMN sequence_location.genesymbol; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.sequence_location.genesymbol IS 'The HGNC symbol fo the gene this squence location falls in';


--
-- Name: COLUMN sequence_location.dbsnpid; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.sequence_location.dbsnpid IS 'The DBSNP identifier (rs#) for this location, optional';


--
-- Name: COLUMN sequence_location."position"; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.sequence_location."position" IS 'The position, or starting position, of this variation on the chromosomal/mitochondrial sequence';


--
-- Name: statistic; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.statistic (
    createdon timestamp without time zone NOT NULL,
    stattype text NOT NULL,
    statvalue numeric NOT NULL
);


--
-- Name: TABLE statistic; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.statistic IS 'A collection of numerical statistics with metadata about this database and other CPIC data';


--
-- Name: term; Type: TABLE; Schema: cpic; Owner: -
--

CREATE TABLE cpic.term (
    id integer DEFAULT nextval('cpic.cpic_id'::regclass) NOT NULL,
    category text NOT NULL,
    term text NOT NULL,
    functionaldef text,
    geneticdef text,
    loinc text,
    version integer DEFAULT 1
);


--
-- Name: TABLE term; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON TABLE cpic.term IS 'Standardized terms for clinical PGx test results';


--
-- Name: COLUMN term.id; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.term.id IS 'A synthetic numerical ID, auto-assigned, primary key';


--
-- Name: COLUMN term.category; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.term.category IS 'Category group this term falls into';


--
-- Name: COLUMN term.term; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.term.term IS 'The term name';


--
-- Name: COLUMN term.functionaldef; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.term.functionaldef IS 'The functional definition of the term';


--
-- Name: COLUMN term.geneticdef; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.term.geneticdef IS 'The genetic definition of the term';


--
-- Name: COLUMN term.loinc; Type: COMMENT; Schema: cpic; Owner: -
--

COMMENT ON COLUMN cpic.term.loinc IS 'The LOINC identifier for the term';


--
-- Data for Name: allele; Type: TABLE DATA; Schema: cpic; Owner: -
--

COPY cpic.allele (id, version, genesymbol, name, functionalstatus, clinicalfunctionalstatus, clinicalfunctionalsubstrate, activityvalue, definitionid, citations, strength, functioncomments, findings, frequency, inferredfrequency) FROM stdin;
1508727	296	ABCG2	rs2231142 variant (T)	\N	Decreased function	\N	\N	1508726	{25236865,21091277,22098950,18464048,18958403,15475413,15553238,10646850,11688982,11309344,25639366,26914831}	Strong	\N	421C>A is assigned a decreased function based strong evidence with numerous in vitro and clinical studies supporting decreased function. It has been found to decrease the expression of BCRP (25236865, 21091277, 22098950, 18464048, 18958403). Expression of the BCRP protein was reported to be 30–40% that of protein with the reference sequence, and expression in the placenta, specifically, was also reportedly lower (15475413, 15553238). The c.421C>A variant has been found to affect the pharmacokinetics of, response to, and toxicity of compounds that are BCRP substrates, including chemotherapeutics and endogenous compounds (10646850, 11688982, 11309344, 25639366, 26914831). Therefore, consensus among experts was decreased function with strong evidence.	{"Latino": 0.2244, "American": 0.2, "European": 0.1036, "Oceanian": 0.2047247, "East Asian": 0.3071, "Near Eastern": 0.0653, "Central/South Asian": 0.0932, "Sub-Saharan African": 0.005846004, "African American/Afro-Caribbean": 0.034866244}	f
778356	301	DPYD	c.632A>G	No function	No function	\N	0.0	778355	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000013646893, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778360	301	DPYD	c.775A>G	Normal function	Normal function	\N	1.0	778359	{25410891}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.007314514, "European": 0.015303651, "East Asian": 0.0, "Central/South Asian": 0.0068804934, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0030573248}	f
778362	301	DPYD	c.868A>G	Decreased function	Decreased function	\N	0.5	778361	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.00033666822, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.002017857, "African American/Afro-Caribbean": 0.0}	f
778364	301	DPYD	c.929T>C	Normal function	Normal function	\N	1.0	778363	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000013648342, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778366	301	DPYD	c.934C>T	Normal function	Normal function	\N	1.0	778365	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000013648715, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778368	301	DPYD	c.967G>A	Normal function	Normal function	\N	1.0	778367	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000041703854, "East Asian": 0.0, "Central/South Asian": 0.00017881511, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778370	297	DPYD	c.1003G>T (*11)	Normal function	Normal function	\N	1.0	778369	{24648345}	Moderate	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.00010, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778338	301	DPYD	c.295_298delTCAT (*7)	No function	No function	\N	0.0	778337	{24648345}	Moderate	\N	5-fluorouracil (in vitro)	{"Latino": 0.00010, "European": 0.00018195312, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778358	299	DPYD	c.703C>T (*8)	No function	No function	\N	0.0	778357	{24648345}	Moderate	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.00009098349, "East Asian": 0.0, "Central/South Asian": 0.00020, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778336	299	DPYD	c.85T>C (*9A)	Normal function	Normal function	\N	1.0	778335	{18452418}	Strong	\N	Dihydrouracil (in vivo)	{"Latino": 0.20892397, "European": 0.22749932, "East Asian": 0.076328315, "Central/South Asian": 0.25525716, "Sub-Saharan African": 0.4464008, "African American/Afro-Caribbean": 0.42713377}	f
778372	297	DPYD	c.1024G>A	No function	No function	\N	0.0	778371	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0031082802}	f
778374	297	DPYD	c.1057C>T	No function	No function	\N	0.0	778373	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778376	297	DPYD	c.1108A>G	Normal function	Normal function	\N	1.0	778375	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.00028279895, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
3942828	84	DPYD	c.1129-5923C>G	Decreased function	Decreased function	\N	0.5	3942827	{28295243}	Strong	\N	5-fluorouracil (ex vivo)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778378	297	DPYD	c.1129-5923C>G, c.1236G>A (HapB3)	Decreased function	Decreased function	\N	0.5	778377	{28295243}	Strong	c.1129-5923C>G is likely HapB3 causal variant. c.1236G>A (E412E) is a proxy SNP for intronic c.1129-5923C>G, which is LD.	5-fluorouracil (ex vivo)	{"Latino": 0.005925072, "European": 0.023735587, "East Asian": 0.0, "Central/South Asian": 0.019658487, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0031082802}	f
778380	297	DPYD	c.1156G>T (*12)	No function	No function	\N	0.0	778379	{24648345}	Moderate	\N	5-fluorouracil (in vitro)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778382	297	DPYD	c.1180C>T	Normal function	Normal function	\N	1.0	778381	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.00010, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778384	297	DPYD	c.1181G>T	Normal function	Normal function	\N	1.0	778383	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0000132841415, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0008968254, "African American/Afro-Caribbean": 0.0}	f
777431	314	CYP2B6	*5	Normal function	Normal function	\N	\N	777430	{11470993,12642465,17559344,20662624,20841522,21659470,22354160,23254426,23399569,23990572,25897175,26389554,26655325,31324697,32238417}	Strong	\N	CYP2B6*5 (c.1459C>T, p.R487C) - Normal function: CYP2B6*5 is assigned normal function based on in vivo (heterozygous and homozygous patients) and in vitro studies. Multiple studies evaluating efavirenz plasma concentrations among patients with HIV found that carriers of the CYP2B6*5 allele had similar efavirenz plasma concentrations compared to the *1 reference (20662624, 20841522, 22354160, 23254426, 23399569, 23990572). A study evaluating efavirenz content in hair samples among HIV patients taking efavirenz for more than three months found that the CYP2B6*5 allele did not impact long term efavirenz exposure (26655325). In human liver microsomes, decreased protein expression and/or activity was reported (11470993, 17559344). In in vitro expression systems, activity ranged from decreased (32238417, 31324697) to no change (21659470) and increased (12642465, 25897175) activity compared to the *1 reference with various substrates. Since differences in protein expression and enzyme activity observed in vitro were not reflected by meaningful differences in vivo in numerous clinical studies (20662624, 20841522, 22354160, 23254426, 23399569, 23990572, 26389554), consensus among experts was normal function based on strong evidence.	{"Latino": 0.038105432, "European": 0.11547839, "Oceanian": 0.02, "East Asian": 0.011, "Near Eastern": 0.024, "Central/South Asian": null, "Sub-Saharan African": 0.02, "African American/Afro-Caribbean": 0.062061857}	f
777433	314	CYP2B6	*6	Decreased function	Decreased function	\N	\N	777432	{12642465,14551287,15194512,16338275,17178267,17235330,17559344,18171905,21659470,22232427,23080225,23344581,23550066,24260284,25456329,25565674,26389554,26655325,27799204,28723731,29756345,30201214,32238417,32302325,34752647,35538637}	Strong	\N	CYP2B6*6 (c.516G>T, p.Q172H/splice defect and c.785A>G, p.K262R) - Decreased function: CYP2B6*6 is assigned decreased function based on in vivo (homozygous and heterozygous patients) and in vitro studies. Significantly lower protein expression and activity was found in human liver microsomes, and increased plasma exposure of CYP2B6 substrates was found in healthy volunteers and patients. In a panel of 87 human liver microsome samples, the CYP2B6*6 allele was associated with significantly decreased protein expression and activity, measured by bupropion 4-hydroxylation and efavirenz 8-hydroxylation (17559344). The mechanism was predominantly aberrant splicing caused by c.516G>T (but not c.785A>G) leading to reduced content of functional mRNA, protein, and activity (14551287, 18171905, 24260284). Multiple in vitro studies using human liver microsomes (17559344, 22232427, (23550066) and cDNA expression systems (21659470, 32238417, 35538637) found that CYP2B6*6 has decreased enzyme activity and metabolism of efavirenz, bupropion, methadone and ketamine. Although two other in vitro studies using cDNA expression systems found increased activity (12642465, 30201214), the experts did not find these results convincing. This discrepancy is probably due to differences in the in vitro expression systems and substrates used. Multiple studies evaluating efavirenz plasma concentrations among patients with HIV found that CYP2B6*6 carriers had higher efavirenz concentrations compared to the *1 reference (e.g., 15194512, 17235330, 27799204). A study evaluating efavirenz content in hair samples among HIV patients taking efavirenz for more than three months similarly found that CYP2B6*6 was associated with greater long term efavirenz exposure (26655325). Other studies using c.516G>T as a tagSNP for CYP2B6*6 (15622315) showed that G/T and T/T genotypes (compared to G/G) were associated with significantly higher efavirenz plasma exposure during HIV therapy. Several studies found that plasma exposure of the active bupropion metabolite hydroxybupropion was less in CYP2B6*6 carriers than in the *1 reference, although bupropion concentration and clearance were unchanged (23344581, 25565674, 29756345, 34752647). Multiple clinical studies of methadone, evaluating metabolism and/or clearance, have shown that methadone plasma exposure (S- more than R-) is greater and/or metabolism and clearance is less in CYP2B6*6 carriers compared to the *1 reference (16338275, 17178267, 17329992, 25456329, 26389554, 28723731, 32302325 ). Therefore, consensus among experts was decreased function based on strong evidence.	{"Latino": 0.21163164, "European": 0.23297834, "Oceanian": 0.62, "East Asian": 0.17446446, "Near Eastern": 0.231, "Central/South Asian": 0.185, "Sub-Saharan African": 0.37487158, "African American/Afro-Caribbean": 0.31696695}	f
777435	314	CYP2B6	*7	Decreased function	Decreased function	\N	\N	777434	{12642465,14551287,18171905,21659470,24260284,30201214,31324697,32238417,35538637}	Limited	\N	CYP2B6*7 (c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R and c.1459C>T, p.R487C) - Decreased function: CYB2B6*7 is assigned decreased function. CYP2B6*7 contains the variants which define CYP2B6*6 in addition to a third SNP (c.1459C>T). Since this is a rare variant, there are no data from human liver microsomes or clinical trials regarding its function. Data from several in vitro expression systems are inconclusive: some studies show decreased activity (31324697, 32238417, 3553863) while others exhibit increased activity (12642465, 21659470, 30201214). This discrepancy is probably due to differences in the in vitro expression systems and substrates used. As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": 0.008, "European": 0.024807692, "Oceanian": 0.01, "East Asian": 0.0, "Near Eastern": 0.024, "Central/South Asian": null, "Sub-Saharan African": 0.016, "African American/Afro-Caribbean": 0.0}	f
777437	314	CYP2B6	*8	No function	No function	\N	\N	777436	{14551287,15190123,20517174,21659470,21746968,30201214}	Limited	\N	CYP2B6*8 (c.415A>G, p.K139E) - No function: CYP2B6*8 is assigned no function. Multiple in vitro studies using human liver microsomes (14551287) and cDNA expression systems (15190123, 20517174, 21659470, 21746968, 30201214) found that CYP2B6*8 had no enzyme activity compared to the *1 reference with various substrates. Therefore, consensus among experts was no function based on limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
777439	314	CYP2B6	*9	Decreased function	Decreased function	\N	\N	777438	{11243870,14551287,15622315,18171905,21659470,22927450,23080225,24260284,30085944,30201214,3090656,32238417,35538637}	Strong	\N	CYP2B6*9 (c.516G>T, p.Q172H/splice defect) - Decreased function: CYP2B6*9 is assigned decreased function. When c.516G>T occurs alone, it defines CYP2B6*9. The c.516G>T variant causes aberrant splicing (14551287, 18171905, 24260284) and is in high linkage disequilibrium with c.785A>G, which is part of the CYP2B6*6 haplotype. c.516G>T is also present in several other haplotypes (e.g., CYP2B6*7, *13, *19, *20, *26, *34, *36, *37 and *38). These haplotypes make it difficult to ascertain the presence of *9 and its clinical function. Although several studies have reported a significant association between c.516G>T and efavirenz exposure (over 3-fold increase) in patient plasma and/or hair samples (15622315, 22927450, 23080225), these associations were erroneously attributed to CYP2B6*9 rather than *6. Several in vitro studies using cDNA expression systems show that CYP2B6*9 decreases activity towards efavirenz, bupropion, methadone, ketamine, and nicotine (21659470, 30085944, 30906561, 32238417, 35538637), while others have shown no or increased activity (11243870, 30201214). This discrepancy is probably due to differences in the in vitro expression systems and substrates used. At present, functional information is informed by the fact that alleles with c.516G>T (e.g., CYP2B6*6) have been associated with decreased function (see description for CYP2B6*6 allele). Therefore, consensus among experts was decreased function based on strong evidence.	{"Latino": 0.07266471, "European": 0.0147, "Oceanian": 0.01, "East Asian": 0.034411334, "Near Eastern": 0.102, "Central/South Asian": 0.059, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.046484537}	f
778386	297	DPYD	c.1218G>A	Normal function	Normal function	\N	1.0	778385	{24648345}	Moderate	\N	5-fluorouracil (in vitro)	{"Latino": 0.0022634026, "European": 0.0002832076, "East Asian": 0.0, "Central/South Asian": 0.00017881053, "Sub-Saharan African": 0.08245437, "African American/Afro-Caribbean": 0.06372611}	f
778388	297	DPYD	c.1260T>A	Normal function	Normal function	\N	1.0	778387	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0005544641, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
779085	103	NUDT15	*11	\N	\N	\N	\N	779084	\N	\N	\N	\N	\N	f
779087	103	NUDT15	*12	\N	\N	\N	\N	779086	\N	\N	\N	\N	\N	f
777443	314	CYP2B6	*11	Decreased function	Uncertain function	\N	\N	777442	{15190123,19916993,20517174,21746968,23734829,23778320,25303294,26779253,27045425,30201214,28886044}	Limited	\N	CYP2B6*11 (c.136A>G, p.M46V) – Uncertain function: CYP2B6*11 is assigned uncertain function. In vitro studies using cDNA expression systems demonstrated decreased or no enzyme activity compared to the *1 reference (20517174, 21746968, 15190123, 30201214). Some studies with heterozygous and homozygous CYP2B6*11 patients showed that this allele is associated with increased exposure of efavirenz (27045425, 26779253, 28886044), while other clinical studies (25303294, 23734829, 19916993, 23778320) did not consistently demonstrate decreased enzyme activity or altered PK with efavirenz. Therefore, consensus among experts was uncertain function based on consistent in vitro data but limited and inconsistent clinical evidence.	{"Latino": 0.0016810922, "European": 0.0030138378, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0021935336, "Sub-Saharan African": 0.070927635, "African American/Afro-Caribbean": 0.0024664723}	f
777447	314	CYP2B6	*13	No function	No function	\N	\N	777446	{15190123,17559344,20517174,30201214}	Limited	\N	CYP2B6*13 (c.415A>G, p.K139E; c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R) - No function: CYP2B6*13 is assigned no function. CYP2B6*13 contains the same variants as CYP2B6*6, which is assigned decreased function, and CYP2B6*8 which is assigned no function. Most in vitro studies including those using cDNA expression systems (15190123, 20517174, 30201214) and human liver microsomes (17559344) found that CYP2B6*13 has no enzyme activity; only one in vitro study using a cDNA expression system showed residual activity for artemether metabolism compared to the *1 reference. This discrepancy is probably due to differences in the in vitro expression systems and substrates used. Therefore, consensus among experts was no function based on limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777449	314	CYP2B6	*14	Decreased function	Uncertain function	\N	\N	777448	{15190123,17559344,20517174,21746968,30201214}	Limited	\N	CYP2B6*14 (c.419G>A, p.R140Q) - Uncertain function: CYP2B6*14 is assigned uncertain function. In vitro studies using human liver microsomes (17559344, 15190123) and cDNA expression systems (15190123, 20517174, 30201214, 21746968) found that CYP2B6*14 has decreased enzyme activity compared to the *1 reference. However, due to the lack of any in vivo or clinical evidence, consensus among experts was uncertain clinical function based on limited evidence.	{"Latino": 0.0016818077, "European": 0.0050876285, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.002744161, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777451	314	CYP2B6	*15	Decreased or no function	Uncertain function	\N	\N	777450	{15190123,17559344,20517174,20662624,21746968,30201214}	Limited	\N	CYP2B6*15 (c.1172T>A, p.I391N) – Uncertain function: CYP2B6*15 is assigned uncertain function. In vitro studies using human liver microsomes (17559344, 15190123) and cDNA expression systems (15190123, 20517174, 21746968, 30201214) showed decreased to no enzyme activity for CYP2B6*15 compared to the *1 reference (20662624). However, due to the lack of any in vivo or clinical evidence, consensus among experts was uncertain function based on limited evidence.	{"Latino": 0.0016141976, "European": 0.0069231493, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.00009347988, "Sub-Saharan African": 0.014535101, "African American/Afro-Caribbean": 0.0}	f
777453	314	CYP2B6	*17	Normal function	Normal function	\N	\N	777452	{16272958,26655325,30201214,32238417,35538637}	Limited	\N	CYP2B6*17 (c.76A>T, p.T26S; c.83A>G, p.D28G; c.85C>A+c.86G>C, p.R29T) – Normal function: CYP2B6*17 is assigned normal function. A study evaluating efavirenz content in hair samples among HIV patients taking efavirenz for more than three months found that long term efavirenz exposure was not impacted by the CYP2B6*17 allele (26655325). Additionally, CYP2B6*17 had similar enzyme activity in vitro using cDNA expression systems compared to the *1 reference (16272958, 30201214, 32238417), but decreased activity for methadone (35538637). This discrepancy is probably due to differences in the in vitro expression systems and substrates used. Therefore, consensus among experts was normal function based on limited evidence.	{"Latino": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0126, "African American/Afro-Caribbean": 0.071}	f
777455	314	CYP2B6	*18	No function	No function	\N	\N	777454	{16272958,16495778,18281305,20517174,21746968,23080225,23344581,25878720,25897175,26655325,30085944,30201214,32238417,34115651,35538637}	Strong	\N	CYP2B6*18 (c. 983T>C, p.I328T) – No function: CYP2B6*18 is assigned no function (note that the formerly assigned CYP2B6*16 allele is now a suballele of CYP2B6*18). Several clinical studies indicate that CYP2B6*18 is strongly associated with higher plasma efavirenz exposure in patients with HIV (18281305, 23080225, 26655325). Studies evaluating efavirenz content in hair samples among patients with HIV taking efavirenz for more than three months found that patients with the CYP2B6*18 allele had nearly double efavirenz exposure compared to the *1 reference (26655325, 34115651). Another study evaluating plasma efavirenz concentrations in patients with HIV found three-fold higher efavirenz concentrations in patients carrying CYP2B6*18 compared to the *1 reference (16495778). Furthermore, CYP2B6*18 is associated with significantly higher exposure of nevirapine in plasma (18281305, 25878720) and hair (34115651) and lower exposure of hydroxybupropion after bupropion administration (23344581). Lower clearance of methadone compared to the *1 reference was found in a CYP2B6*18 carrier (35538637). Several in vitro studies found that CYP2B6*18 exhibited undetectable (or markedly decreased) protein expression and/or activity towards different probe substrates including efavirenz, bupropion, ketamine, and methadone, in several cDNA expression systems (16272958, 16495778, 20517174, 21746968, 25897175, 30085944, 30201214, 32238417, 35538637). Therefore, consensus among experts was no function based on strong evidence.	{"Latino": 0.014610389, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.05768421, "African American/Afro-Caribbean": 0.03296694}	f
778390	297	DPYD	c.1278G>T	Normal function	Normal function	\N	1.0	778389	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000013647595, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778392	297	DPYD	c.1294G>A	Normal function	Normal function	\N	1.0	778391	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.00010, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778394	297	DPYD	c.1314T>G	Decreased function	Decreased function	\N	0.5	778393	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.00068351155, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777457	314	CYP2B6	*19	Decreased function	Decreased function	\N	\N	777456	{16272958,21746968,30085944,30201214,31324697,32238417,35538637}	Limited	\N	CYP2B6*19 (c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R; c.1006C>T, p.R336C) – Decreased function: CYP2B6*19 is assigned decreased function. CYP2B6*19 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). CYP2B6*19 has a unique SNP, c.1006C>T, which discriminates it from other alleles with c.516G>T. Several in vitro studies using cDNA expression systems found decreased enzyme activity for CYP2B6*19 compared to the *1 reference with various substrates (16272958, 21746968, 30201214, 30085944, 31324697, 32238417, 35538637). As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.016, "African American/Afro-Caribbean": 0.0}	f
777459	314	CYP2B6	*20	Decreased function	Decreased function	\N	\N	777458	{16272958,21746968,30201214}	Limited	\N	CYP2B6*20 (c.503C>T, p.T168I; c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R) – Decreased function: CYP2B6*20 is assigned decreased function. CYP2B6*20 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). Three in vitro studies using cDNA expression systems found decreased enzyme activity of CYP2B6*20 compared to the *1 reference with various substrates (16272958, 21746968, 30201214). As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.016, "African American/Afro-Caribbean": 0.0}	f
777463	314	CYP2B6	*22	Normal or increased function	Uncertain function	\N	\N	777462	{15722458,17235330,17559344,20624854,35194103}	Inadequate	\N	CYP2B6*22 (c.-82T>C) – Uncertain function: CYP2B6*22 is assigned uncertain function. One study in human liver microsomes found that CYP2B6*22 had increased enzyme activity towards efavirenz and bupropion compared to the *1 reference (17559344). A second study found increased levels of CYP2B6*22 mRNA expression levels in human liver tissue and enzyme activity in liver microsomes compared to the *1 reference (15722458). A recent study using human liver tissues did not find increased mRNA content or activity (35194103); this study was limited by having only two samples genotyped as CYP2B6*1*22. Therefore, the consensus among experts was uncertain function based on inadequate evidence.	{"Latino": null, "European": 0.014, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.031, "African American/Afro-Caribbean": 0.011}	f
777467	314	CYP2B6	*24	\N	Uncertain function	\N	\N	777466	{20517174,21746968,30201214}	Inadequate	\N	CYP2B6*24 (c.1427G>A, p.G476D) – Uncertain function: CYP2B6*24 is assigned uncertain function. In vitro studies using cDNA expression systems found that CYP2B6*24 had no enzyme activity towards several substrates compared to the *1 reference (20517174, 21746968, 30201214). However, there was no in vivo data available or data in human liver microsomes. Therefore, consensus among experts was uncertain function based on inadequate evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777469	313	CYP2B6	*25	\N	Uncertain function	\N	\N	777468	{20517174,21746968,30201214}	Inadequate	\N	CYP2B6*25 (c.1454A>T, p.Q485L) – Uncertain function: CYP2B6*25 is assigned uncertain function. In vitro studies using cDNA expression systems showed no significant changes in enzyme activity and/or protein expression compared to the *1 reference (20517174, 21746968, 30201214). However, there were no in vivo data available or data in human liver microsomes. Therefore, consensus among experts was uncertain function based on inadequate evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777471	314	CYP2B6	*26	Decreased function	Decreased function	\N	\N	777470	{17918089,30085944,30201214,32238417,34100292}	Limited	\N	CYP2B6*26 (c.499C>G, p.P167A; c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R) – Decreased function: CYP2B6*26 is assigned decreased function. CYP2B6*26 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). One study evaluating efavirenz plasma concentrations among patients with HIV found CYP2B6*26 was associated with elevated efavirenz concentrations compared to the *1 reference and has similar function to CYP2B6*6. This was demonstrated by similar efavirenz concentrations among CYP2B6 *6/*26 subjects CYP2B6 *6/*6 subjects (17918089). Although one in vitro study using a cDNA expression system found that CYP2B6*26 demonstrated increased enzyme activity compared to the *1 reference (30201214), the experts did not find these results convincing as it has previously been shown that in vitro expression systems may not adequately reflect CYP2B6*6 expression and function, and therefore also not be a suitable system to assess CYP2B6*26. As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778396	297	DPYD	c.1349C>T	Normal function	Normal function	\N	1.0	778395	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.00008888889, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.003892857, "African American/Afro-Caribbean": 0.0}	f
778398	297	DPYD	c.1358C>G	Normal function	Normal function	\N	1.0	778397	{23588312}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.002017857, "African American/Afro-Caribbean": 0.0030573248}	f
777473	314	CYP2B6	*27	\N	Uncertain function	\N	\N	777472	{17235330,21746968,30201214}	Inadequate	\N	CYP2B6*27 (c.593T>C, p.M198T) – Uncertain function: CYP2B6*27 is assigned uncertain function. Three in vitro studies using cDNA expression systems found that CYP2B6*27 demonstrated decreased enzyme activity compared to the *1 reference for most substrates, although increased activity was seen for one non-drug probe substrate (21746968, 17235330, 30201214). This discrepancy is probably due to differences in the in vitro expression systems and substrates used. One subject with the CYP2B6*6/*27 genotype had an elevated efavirenz AUC compared to the *1 reference (17235330). Consensus was not achieved among experts due to insufficient evidence of this variant in human subjects. Therefore, uncertain function was assigned based on inadequate evidence.	{"Latino": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.008, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.006, "African American/Afro-Caribbean": null}	f
777475	314	CYP2B6	*28	No function	No function	\N	\N	777474	{17235330,20517174,30201214}	Limited	\N	CYP2B6*28 (c.917C>G, p.T306S; c.1132C>T, p.R378X) – No function: CYP2B6*28 is assigned no function. CYP2B6*28 is defined by a nonsense mutation which results in a premature stop codon resulting in a truncated protein. One study evaluating efavirenz plasma concentrations in patients with HIV found a subject with CYP2B6 *6/*28 genotype had elevated efavirenz AUC compared to the *1 reference and CYP2B6 *6/*6 subjects (17235330). In vitro studies using cDNA expression systems found that CYP2B6*28 demonstrated no enzyme activity (17235330, 20517174). Therefore, consensus among experts was no function based on limited evidence.	{"Latino": 0.0, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.006, "African American/Afro-Caribbean": null}	f
777477	314	CYP2B6	*29	Decreased function	Decreased function	\N	\N	777476	{17885627,28181240}	Limited	\N	CYP2B6*29 (CYP2B7-CYP2B6 hybrid gene) – Decreased function: CYP2B6*29 is assigned decreased function. This allele is a hybrid consisting of CYP2B7 (exons 1-4) and CYP2B6 (exons 5-9) harboring 23 amino acid changes compared to the protein encoded by the CYP2B6*1 reference. Among those is c.516G>T which is one of the function-altering variants defining CYP2B6*6. CYP2B6*29 was identified in a subject with an elevated efavirenz AUC compared to the *1 reference and similar to those seen in patients carrying one decreased function allele (17885627). One in vitro study found that primary human hepatocytes of subjects with a CYP2B6*29 allele had slightly lower protein expression and enzyme activity compared to the *1 reference (28181240). The same study also showed that the AUC for 4-OH-cyclophosphamide was significantly lower for patients with a CYP2B6*1/*29 genotype compared to *1/*1 (28181240). Therefore, consensus among experts was decreased function based on limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777479	314	CYP2B6	*30	No function	No function	\N	\N	777478	{23164804,28181240}	Limited	\N	CYP2B6*30 (CYP2B7-CYP2B6 hybrid gene) – No function: CYP2B6*30 is assigned no function. This allele has a hybrid gene consisting of CYP2B6 (exons 1-4) and CYP2B7 (exons 5-9) harboring 15 amino acid changes compared to the protein encoded by the CYP2B6*1 reference. Among those is a premature stop codon (p.R378X) which is also found in CYP2B6*28 (23164804). This allele has been found in a duplication structure; it remains uncertain, however, whether the other gene in the duplication is a *1, *4 or *6 (or potentially other). Although CYP2B6*30 has no function, the function of this duplication allele depends on the nature of the other gene copy. One in vitro study found that primary human hepatocytes of subjects with a CYP2B6*30 had significantly lower mRNA and protein expression and enzyme activity compared to the *1 reference (28181240). The same study also showed that the AUC for 4-OH-cyclophosphamide was significantly lower for patients with *1/*30 compared to *1/*1 (28181240). In this study, the presence of a CYP2B6*30 was inferred by subjects having three gene copies and sequence analysis of the *30; however, the study did not provide any information regarding the nature of the second gene copy of the duplication. Therefore, consensus among experts was no function based on limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777481	314	CYP2B6	*31	Normal function	Normal function	\N	\N	777480	{26655325,30201214}	Limited	\N	CYP2B6*31 (c.937C>A, p.L313I) – Normal function: CYP2B6*31 is assigned normal function. A study evaluating efavirenz content in hair samples among patients with HIV taking efavirenz for more than three months found CYP2B6*31 did not impact long term efavirenz content (26655325). An in vitro study using a cDNA expression system similarly found CYP2B6*31 demonstrated similar enzyme activity compared to the *1 reference (30201214). Therefore, consensus among experts was normal function based on limited evidence.	{"Latino": 0.0, "European": 0.000007472868, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777483	314	CYP2B6	*32	Normal function	Normal function	\N	\N	777482	{26655325,30201214}	Limited	\N	CYP2B6*32 (c.1219G>A, p.A407T) – Normal function: CYP2B6*32 is assigned normal function. A study evaluating efavirenz content in hair samples among patients with HIV taking efavirenz for more than three months found CYP2B6*32 did not impact long term efavirenz content (26655325) compared to the *1 reference. Although one in vitro study using a cDNA expression system found that CYP2B6*32 demonstrated increased enzyme activity compared to the *1 reference (30201214), the experts did not find these results convincing. Therefore, consensus among experts was normal function based on limited evidence.	{"Latino": 0.00002978, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777485	314	CYP2B6	*33	\N	Uncertain function	\N	\N	777484	{23418033,30201214}	Inadequate	\N	CYP2B6*33 (c.1459C>A, p.R487S) – Uncertain function: CYP2B6*33 is assigned uncertain function. In vitro studies using cDNA expression systems found CYP2B6*33 demonstrated activity similar to the *1 reference or increased enzyme activity (23418033, 30201214). This discrepancy is probably due to differences in the in vitro expression systems and substrates used. Therefore, consensus among experts was uncertain function based on inadequate evidence as it could not be determined if phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777487	314	CYP2B6	*34	Decreased function	Decreased function	\N	\N	777486	{23418033,30201214}	Limited	\N	CYP2B6*34 (c.-82T>C, c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R; c.1459C>A, p.R487S) – Decreased function: CYP2B6*34 is assigned decreased function. CYP2B6*34 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information) (23418033). Although one in vitro study using a cDNA expression system found that CYP2B6*34 demonstrated increased enzyme activity compared to the *1 reference (30201214), the experts did not find these results convincing as it has previously been shown that in vitro expression systems may not adequately reflect CYP2B6*6 expression and function, and therefore also not be a suitable system to assess CYP2B6*34. As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777489	314	CYP2B6	*35	\N	Uncertain function	\N	\N	777488	{23418033,30201214}	Inadequate	\N	CYP2B6*35 (c.-82T>C; c.329G>T, p.G110V; c.341T>C, p.I114T; c.444G>T, p.E148D; c.593T>C, p.M198T; c.835G>C, p.A279P) – Uncertain function: CYB2B6*35 is assigned uncertain function. Two in vitro studies using cDNA expression systems provided inconclusive evidence for CYP2B6*35 function (23418033, 30201214). Therefore, consensus among experts was uncertain function based on inadequate evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777491	314	CYP2B6	*36	Decreased function	Decreased function	\N	\N	777490	{23418033}	Limited	\N	CYP2B6*36 (c.-82T>C, c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R) – Decreased function: CYB2B6*36 is assigned decreased function. CYP2B6*36 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information) (23418033). As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777493	314	CYP2B6	*37	Decreased or no function	Decreased function	\N	\N	777492	{23418033,30201214}	Limited	\N	CYP2B6*37 (c.516G>T, p.Q172H/splice defect; c.548T>G, p.V183G; c.785A>G, p.K262R) – Decreased function: CYB2B6*37 is assigned decreased function. CYP2B6*37 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information) (23418033). Multiple in vitro studies using cDNA expression systems found that CYP2B6*37 has no enzyme activity with bupropion and efavirenz compared to the *1 reference (23418033, 30201214). However, there was no in vivo data or data for liver microsomes. As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777495	314	CYP2B6	*38	No function	No function	\N	\N	777494	{23640958}	Limited	\N	CYP2B6*38 (c.186T>A, p.Y62X; c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R) – No function: CYB2B6*38 is assigned no function. CYP2B6*38 contains the variants which define CYP2B6*6 in addition to a third variant which causes a premature stop codon. CYP2B6*38 was identified in a patient taking efavirenz who developed neurologic symptoms and was found to have an efavirenz plasma concentration 40-fold above normal limit. Efavirenz was discontinued and efavirenz plasma concentrations returned to normal after 10 weeks in addition to resolution of neurologic symptoms (23640958). Therefore, consensus among experts was no function based on limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2899143	103	CYP2B6	*39	Decreased function	Decreased function	\N	\N	2899142	{14551287,18171905,24260284,38596098}	Limited	\N	CYP2B6*39 (c.418C>T, p.R140W; c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R) – Decreased function: CYP2B6*39 is assigned decreased function. CYP2B6*39 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). A single in vitro study reported decreased function for p.R140W using buproprion and efavirez as probes (38596098). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778400	297	DPYD	c.1371C>T	Normal function	Normal function	\N	1.0	778399	{23588312}	Limited	\N	5-fluorouracil (ex vivo)	{"Latino": 0.00071320933, "European": 0.00017700421, "East Asian": 0.0, "Central/South Asian": 0.00008935568, "Sub-Saharan African": 0.020694444, "African American/Afro-Caribbean": 0.015828025}	f
778402	297	DPYD	c.1403C>A	Normal function	Normal function	\N	1.0	778401	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000039617094, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778404	297	DPYD	c.1475C>T	No function	No function	\N	0.0	778403	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.00020, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2899145	103	CYP2B6	*40	Decreased function	Decreased function	\N	\N	2899144	{14551287,18171905,24260284,38596098}	Limited	\N	CYP2B6*40 (c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R; c.1133G>A, p.R378Q) – Decreased function: CYP2B6*40 is assigned decreased function. CYP2B6*40 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). A single in vitro study reported decreased function for p.R378Q using buproprion and efavirez as probes (38596098). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2899147	103	CYP2B6	*41	Decreased function	Decreased function	\N	\N	2899146	{14551287,18171905,24260284,38596098}	Limited	\N	CYP2B6*41 (c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R; c.1138T>C, p.Y380H) – Decreased function: CYP2B6*41 is assigned decreased function. CYP2B6*41 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). A single in vitro study reported decreased function for p.Y380H using buproprion and efavirez as probes (38596098). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2899149	103	CYP2B6	*42	Decreased function	Decreased function	\N	\N	2899148	{14551287,18171905,24260284,38596098}	Limited	\N	CYP2B6*42 (c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R; c.1328G>A, p.R443H) – Decreased function: CYP2B6*42 is assigned decreased function. CYP2B6*42 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). A single in vitro study reported decreased function for p.R443H using buproprion and efavirez as probes (38596098). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2899151	103	CYP2B6	*43	Decreased function	Decreased function	\N	\N	2899150	{14551287,18171905,24260284,38596098}	Limited	\N	CYP2B6*43 (c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R; c.1390G>A, p.A464T) – Decreased function: CYP2B6*43 is assigned decreased function. CYP2B6*43 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). A single in vitro study reported decreased function for p.A464T using buproprion and efavirez as probes (38596098). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2899153	103	CYP2B6	*44	\N	Uncertain function	\N	\N	2899152	{38596098}	Inadequate	\N	CYP2B6*44 (c.304G>A, p.A102T) – Uncertain function: CYP2B6*44 is assigned uncertain function due to inadequate evidence describing function. A single in vitro study reported decreased function for p.A102T using buproprion and efavirez as probes (38596098).	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2899157	103	CYP2B6	*46	\N	Uncertain function	\N	\N	2899156	{38596098}	Inadequate	\N	CYP2B6*46 (c.740A>C, p.H247P) – Uncertain function: CYP2B6*46 is assigned uncertain function due to inadequate evidence describing function. A single in vitro study reported decreased function for p.H247P using buproprion and efavirez as probes (38596098).	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2899159	103	CYP2B6	*47	\N	Uncertain function	\N	\N	2899158	{38596098}	Inadequate	\N	CYP2B6*47 (c.1060_1061delinsCG, p.Y354R) – Uncertain function: CYP2B6*47 is assigned uncertain function due to inadequate evidence describing function. A single in vitro study reported decreased function for p.Y354R using buproprion and efavirez as probes (38596098).	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2899161	103	CYP2B6	*48	\N	Uncertain function	\N	\N	2899160	{38596098}	Inadequate	\N	CYP2B6*48 (c.1145T>A, p.I382N) – Uncertain function: CYP2B6*48 is assigned uncertain function due to inadequate evidence describing function. A single in vitro study reported decreased function for p.I382N using buproprion and efavirez as probes (38596098).	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2899163	103	CYP2B6	*49	\N	Uncertain function	\N	\N	2899162	{38596098}	Inadequate	\N	CYP2B6*49 (c.1301G>A, p.R434Q) – Uncertain function: CYP2B6*49 is assigned uncertain function due to inadequate evidence describing function. A single in vitro study reported decreased function for p.R434Q using buproprion and efavirez as probes (38596098).	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779089	103	NUDT15	*13	\N	\N	\N	\N	779088	\N	\N	\N	\N	\N	f
777539	314	CYP2C19	*4	\N	No function	\N	\N	777538	{9435198,21358751}	Limited	\N	CYP2C19*4 is assigned no function based on limited evidence in heterozygous subjects and an in vitro study. Two subjects with CYP2C19 *2/*4 genotype demonstrated decreased mephenytoin metabolism compared to wildtype subjects based on urine metabolite concentrations. This correlated with the in vitro experiment which found CYP2C19*4 protein was not expressed but mRNA levels were similar to wildtype indicating CYP2C19*4, which is defined by a SNP in the initiation codon, is not properly translated (9435198). Thus, the CYP2C19*4 defining SNP would result in a nonfunctional protein, even in the presence of a SNP associated with increased enzyme function (21358751). Therefore, consensus among experts was no function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function and decreased function alleles.	{"Latino": 0.0005202914, "American": 0.00001870861, "European": 0.002359747, "Oceanian": null, "East Asian": 0.00017735043, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777541	314	CYP2C19	*5	\N	No function	\N	\N	777540	{9103550,10022751,21325430,25001882,21692664}	Moderate	\N	CYP2C19*5 is assigned no function based on moderate evidence in heterozygous subjects and in vitro studies. CYP2C19*5 was first described in a subject demonstrating decreased mephenytoin metabolism compared to wildtype subjects and similar mephenytoin metabolism compared to CYP2C19 *2/*2, CYP2C19 *2/*3, and CYP2C19 *3/*3 subjects based on S/R mephenytoin ratio in urine metabolites (9103550) . One CYP2C19*2/*5 subject similarly demonstrated decreased phenytoin metabolism based on S/R mephenytoin ratio in urine metabolites. This result was correlated with an in vitro study which showed CYP2C19*5 had a 40% decrease in enzyme expression, 0.4% enzyme activity with a mephenytoin substrate, and nondetectable enzyme activity with a tolbutamide substrate compared to wildtype (10022751). Two additional in vitro studies using different cell systems found CYP2C19*5 had nondetectable enzyme activity with mephenytoin, omeprazole, and clopidogrel substrates (21325430, 25001882). CYP2C19.5B showed no activity towards CEC (3-cyano-7-ethoxycoumarin) O-deethylation (21692664). Therefore, consensus among experts was no function based on moderate evidence.	{"Latino": 0.0, "American": 0.0, "European": 0.000028767667, "Oceanian": null, "East Asian": 0.0032252397, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777543	314	CYP2C19	*6	\N	No function	\N	\N	777542	{9732415,21325430,25001882}	Limited	\N	CYP2C19*6 is assigned no function based on limited evidence in a heterozygous subject and in vitro studies. CYP2C19*6 was first described in a subject demonstrating decreased mephenytoin metabolism based on urine metabolite concentrations. This correlated with an in vitro study which found CYP2C19*6 had nondetectable enzyme activity with mephenytoin and tolbutamide substrates (9732415). Two additional in vitro studies using different cell systems found CYP2C19*6 had nondetectable enzyme activity with mephenytoin, omeprazole, and clopidogrel substrates (21325430, 25001882). Therefore, consensus among experts was no function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function and decreased function alleles.	{"Latino": 0.0, "American": null, "European": 0.00030023712, "Oceanian": null, "East Asian": 0.0005600443, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777547	314	CYP2C19	*8	\N	No function	\N	\N	777546	{10411572,21325430,25001882,21692664}	Limited	\N	CYP2C19*8 is assigned no function based on limited evidence in a heterozygous subject and in vitro studies. CYP2C19*8 was first described in a subject demonstrating decreased metabolism of mephenytoin based on urine metabolite concentrations. This correlated with an in vitro study which found CYP2C19*8 had decreased enzyme activity compared to wildtype with mephenytoin and tolbutamide substrates (10411572). Two additional in vitro studies using different cell systems found CYP2C19*8 had nondetectable enzyme activity with mephenytoin, omeprazole, and clopidogrel substrates (21325430, 25001882). Another study found CYP2C19*8 exhibited significantly reduced catalytic activities compared with CYP2C19*1 across multiple substrates and distinct function from other decreased function alleles (21692664). Therefore, consensus among experts was no function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function and decreased function alleles.	{"Latino": 0.0012738854, "American": 0.0, "European": 0.0033593778, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0011203007}	f
777549	314	CYP2C19	*9	\N	Decreased function	\N	\N	777548	{12464799,21325430,25001882,21692664}	Limited	\N	CYP2C19*9 is assigned decreased function based on limited evidence. Three in vitro studies using different cell systems found CYP2C19*9 demonstrated decreased enzyme activity compared to wildtype with mephenytoin, omeprazole, and clopidogrel substrates (12464799, 21325430, 25001882). Another study found CYP2C19*9 exhibited significantly reduced catalytic activities compared with CYP2C19*1 across multiple substrates (21692664).Therefore, consensus among experts was decreased function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.0008389262, "American": null, "European": 0.0006602626, "Oceanian": null, "East Asian": 0.00011504832, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.026961539, "African American/Afro-Caribbean": 0.014347053}	f
777551	314	CYP2C19	*10	\N	Decreased function	\N	\N	777550	{12464799,19661214,21325430,25001882,24945780,21692664}	Limited	\N	CYP2C19*10 is assigned decreased function based on limited evidence.Six in vitro studies using different cell systems found CYP2C19*10 demonstrated decreased enzyme activity compared to wildtype with mephenytoin, omeprazole, and clopidogrel substrates (12464799, 19661214, 21325430, 25001882, 24945780). Another study found CYP2C19*10 exhibited significantly reduced catalytic activities compared with CYP2C19*1 across multiple substrates (21692664). Therefore, consensus among experts was decreased function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.0012398496, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.00010471204, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0032672414}	f
777553	314	CYP2C19	*11	\N	Normal function	\N	\N	777552	{12464799,21325430,25001882,21692664}	Limited	\N	CYP2C19*11 is assigned normal function based on limited evidence. Three in vitro studies using different cell systems found CYP2C19*11 demonstrated similar enzyme activity compared to wildtype with mephenytoin, omeprazole, clopidogrel and other substrates (12464799, 21325430, 25001882, 21692664). Therefore, consensus among experts was normal function based on limited evidence as it was determined the phenotypes containing this allele would be clinically similar to phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777555	314	CYP2C19	*12	\N	Uncertain function	\N	\N	777554	{12464799}	Inadequate	\N	CYP2C19*12 is assigned uncertain function due to inadequate evidence. In one in vitro study CYP2C19*12 was poorly expressed and enzyme activity could not be assessed with a mephenytoin substrate (12464799). CYP2C19*12 is defined by the conversion of the stop codon to cysteine, and it is unclear if this protein is unstable in vivo. Therefore, consensus among experts was not achieved and uncertain function was assigned.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.000108813925, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0011203007}	f
777557	314	CYP2C19	*13	\N	Normal function	\N	\N	777556	{12464799,21325430,25001882,21692664}	Limited	\N	CYP2C19*13 is assigned normal function based on limited evidence. Three in vitro studies using different cell systems found CYP2C19*13 demonstrated similar enzyme activity compared to wildtype with mephenytoin, omeprazole, clopidogrel and other substrates (12464799, 21325430, 25001882, 21692664). Therefore, consensus among experts was normal function based on limited evidence as it was determined the phenotypes containing this allele would be clinically similar to phenotypes comprising normal function alleles.	{"Latino": 0.004, "American": null, "European": 0.0022364424, "Oceanian": null, "East Asian": 0.00011504832, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.012}	f
777559	314	CYP2C19	*14	\N	Uncertain function	\N	\N	777558	{21325430,25001882,21692664}	Inadequate	\N	CYP2C19*14 is assigned uncertain function due to inadequate evidence. CYP2C19*14 demonstrated similar enzyme activity compared to wildtype with mephenytoin, omeprazole, and other substrates (21325430, 21692664). In a separate in vitro study CYP2C19*14 demonstrated decreased activity compared to wildtype with mephenytoin and clopidogrel substrates (25001882). Therefore, consensus among experts was not achieved and uncertain function was assigned.	{"Latino": 0.0, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0001145213, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777561	314	CYP2C19	*15	\N	Normal function	\N	\N	777560	{21325430,25001882}	Limited	\N	CYP2C19*15 is assigned normal function based on limited evidence. Two in vitro studies using different cell systems found CYP2C19*15 demonstrated similar enzyme activity compared to wildtype with mephenytoin and omeprazole substrates (21325430, 25001882). Therefore, consensus among experts was normal function based on limited evidence as it was determined the phenotypes containing this allele would be clinically similar to phenotypes comprising normal function alleles.	{"Latino": 0.004, "American": null, "European": 0.002, "Oceanian": null, "East Asian": 0.0013589837, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.052882355, "African American/Afro-Caribbean": 0.014}	f
777563	314	CYP2C19	*16	\N	Decreased function	\N	\N	777562	{15499191,21325430,25001882,21692664}	Limited	\N	CYP2C19*16 is assigned normal function based on limited evidence. A subject with CYP2C19 *2/*16 genotype demonstrated decreased mephobarbital excretion compared to heterozygous CYP2C19 *2 or CYP2C19*3 subjects but greater mephobarbital excretion compared to subjects carrying two no function alleles based on urine metabolites after a 200mg dose (15499191). Two in vitro studies using different cell systems found CYP2C19*16 had nondetectable or decreased enzyme activity compared to wildtype with mephenytoin, omeprazole, and clopidogrel substrates (25001882, 21325430). Another study found CYP2C19*16 exhibited significantly reduced catalytic activities compared with CYP2C19*1 across multiple substrates (21692664).Therefore, consensus among experts was decreased function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
777565	314	CYP2C19	*17	\N	Increased function	\N	\N	777564	{16413245,17625515,20083681,17625515,32857933,29325448,29136336,31649299,20083681}	Definitive	\N	CYP2C19*17 is assigned increased function based on strong evidence in homozygous and heterozygous subjects. Subjects with CYP2C19 *1/*17 and CYP2C19 *17/*17 genotype demonstrated increased omeprazole metabolism compared to wildtype subjects based on plasma metabolite measurements. The predicted AUC of omeprazole in CYP2C19*17/*17 patients was 63% of the predicted AUC in wildtype subjects. Additionally, in a separate population, CYP2C19*17/*17 subjects demonstrated increased mephenytoin metabolism compared to wildtype and CYP2C19 *1/*17 subjects. A murine study found increased gene transcription of CYP2C19*17 likely results in the observed increased enzyme activity (16413245). CYP2C19 *17/*17 patients taking escitalopram had 42% serum escitalopram concentrations compared to wildtype (17625515). Also, in adolescents with generalized anxiety disorder, patients with *4/*17 or *17/*17 had lower AUC/CMAX compared to normal (*1/*1) and poor metabolizers and expected differences in the ratios of s-citalopram to its metabolite, desmethylcitalopram (PMID 32857933). Additionally, CYP2C19 *1/*17 and *17/*17 carriers in naturalistically studied depressed adults had 10% and 20% lower serum concentration compared to CYP2C19 NMs (29325448). In healthy adults, *17/*17 was associated with lower sertraline AUC vs normal metabolizers (29136336), although in a separate study involving more than 1200 patients, the CYP2C19*17 allele was associated with 8% lower serum concentration compared to NMs (31649299). CYP2C19 *17/*17 patients taking clopidogrel had lower ADP induced platelet aggregation likely as a result of increased clopidogrel metabolism to its active metabolite compared to wildtype and CYP2C19 *1/*17 patients (20083681). Therefore, consensus among experts was increased function based on strong evidence.	{"Latino": 0.16655846, "American": 0.086080186, "European": 0.2154386, "Oceanian": 0.057, "East Asian": 0.020541333, "Near Eastern": 0.1914227, "Central/South Asian": 0.17077276, "Sub-Saharan African": 0.17333587, "African American/Afro-Caribbean": 0.2072274}	f
778406	297	DPYD	c.1484A>G	No function	No function	\N	0.0	778405	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778408	297	DPYD	c.1519G>A	Normal function	Normal function	\N	1.0	778407	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000013648505, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777569	314	CYP2C19	*19	\N	Decreased function	\N	\N	777568	{17455109,18312490,21325430,25001882,21692664}	Limited	\N	CYP2C19*19 is assigned decreased function based on limited evidence. In vitro studies found CYP2C19*19 had decreased intrinsic clearance compared to wildtype with mephenytoin, omeprazole, and clopidogrel substrates (17455109, 21325430, 25001882). Although two in vitro studies found CYP2C19*19 demonstrated similar intrinsic clearance compared to wildtype with omeprazole and mephenytoin, the experts did not find these results convincing as CYP2C19*19 also demonstrated higher Km values compared to wildtype in these studies, suggesting CYP2C19*19 has decreased substrate affinity (18312490, 21325430). Additionally, decreased intrinsic clearance compared to wildtype with these two substrates was previously reported as mentioned above. Another study found CYP2C19*19 exhibited significantly reduced catalytic activities compared with CYP2C19*1 across multiple substrates (21692664).Therefore, consensus among experts was decreased function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00019673406, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777571	314	CYP2C19	*22	\N	No function	\N	\N	777570	{25001882,19164093}	Limited	\N	CYP2C19*22 is assigned no function based on limited in vitro and computational evidence. An in vitro study found CYP2C19*22 had 8% enzyme activity compared to wildtype with a clopidogrel substrate and nondetectable enzyme activity compared to wildtype with a mephenytoin substrate (25001882). Crystal structure analysis shows the Arg186Pro substitution in CYP2C19*22 disrupts hydrogen bonds and alters protein structure resulting in decreased heme affinity and ultimately enzyme activity (19164093). Therefore, consensus among experts was no function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function and decreased function alleles.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
777573	314	CYP2C19	*23	\N	Uncertain function	\N	\N	777572	{25001882,27578295,30464555,31713493}	Inadequate	\N	CYP2C19*23 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C19*23 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (25001882, 27578295, 30464555, 31713493). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00056672905, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777575	314	CYP2C19	*24	\N	No function	\N	\N	777574	{25001882,27578295,31713493}	Limited	\N	CYP2C19*24 is assigned no function based on limited evidence. In vitro studies found CYP2C19*24 demonstrated nondetectable enzyme activity compared to wildtype with mephenytoin, clopidogrel, and omeprazole substrates (25001882, 27578295, 31713493). Additionally, CYP2C19*24 had less holoprotein compared to wildtype suggesting the protein is less stable resulting in little to no enzyme activity (27578295). Therefore, consensus among experts was no function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function and decreased function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00018712576, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777577	314	CYP2C19	*25	\N	Decreased function	\N	\N	777576	{25001882,19636337,31713493}	Limited	\N	CYP2C19*25 is assigned decreased function based on limited in vitro and computational evidence. An in vitro study found CYP2C19*25 had decreased intrinsic clearance compared to wildtype with clopidogrel and mephenytoin, and omeprazole substrates (25001882, 31713493). A computational analysis of the Phe448Leu amino acid substitution in CYP2C19*25 predicted the change as deleterious. An examination of the structure showed the amino acid substitution, which is important for the heme-binding region, could disrupt the hydrophobic pocket in the region (19636337). Therefore, consensus among experts was decreased function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00018712576, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777579	314	CYP2C19	*26	\N	Decreased function	\N	\N	777578	{19661214,25001882}	Limited	\N	CYP2C19*26 is assigned decreased function based on limited evidence in a heterozygous subject and in vitro studies. CYP2C19*26 was first described in a subject also carrying the CYP2C19*2 allele and demonstrated decreased omeprazole metabolism compared to wildtype and CYP2C19 *1/*2 or CYP2C19*1/*3 subjects based on the plasma metabolite ratio. This result was correlated with an in vitro study which showed CYP2C19*26 demonstrated decreased intrinsic clearance compared to wildtype with mephenytoin and omeprazole substrates (19661214). An additional in vitro study using a different cell system similarly found CYP2C19*26 demonstrated decreased intrinsic clearance compared to wildtype with mephenytoin and clopidogrel substrates (25001882). Therefore, consensus among experts was decreased function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778410	297	DPYD	c.1543G>A	Normal function	Normal function	\N	1.0	778409	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.00009100371, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778412	297	DPYD	c.1577C>G	Normal function	Normal function	\N	1.0	778411	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0003390512, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778414	297	DPYD	c.1601G>A (*4)	Normal function	Normal function	\N	1.0	778413	{23588312}	Moderate	\N	5-fluorouracil (ex vivo)	{"Latino": 0.009438756, "European": 0.019760394, "East Asian": 0.0, "Central/South Asian": 0.008595228, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.009713376}	f
779091	103	NUDT15	*14	\N	\N	\N	\N	779090	\N	\N	\N	\N	\N	f
777581	314	CYP2C19	*28	\N	Normal function	\N	\N	777580	{25001882,20712527}	Limited	\N	CYP2C19*28 is assigned normal function based on limited in vitro and computational evidence. An in vitro study found CYP2C19*28 had similar intrinsic clearance compared to wildtype with a mephenytoin substrate (25001882). A computational analysis including splice site, mFold and nonsynonymous mutation analysis, did not find a deleterious impact on enzyme function (20712527). Although CYP2C19*28 was found to have increased intrinsic clearance compared to wildtype with a clopidogrel substrate in vitro (25001882), the experts did not find this result convincing as computational analysis and in vitro data with mephenytoin did not support increased function. Therefore, consensus among experts was normal function based on limited evidence as it was determined the phenotypes containing this allele would be clinically similar to phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0037037036, "African American/Afro-Caribbean": null}	f
777585	314	CYP2C19	*30	\N	Uncertain function	\N	\N	777584	{26153442,30464555,29098786}	Inadequate	\N	CYP2C19*30 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C19*30 demonstrated decreased enzyme activity compared to wildtype with mephenytoin, omeprazole, voriconazole, and nebivolol substrates (26153442, 30464555, 29098786). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00019440125, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777587	314	CYP2C19	*31	\N	Uncertain function	\N	\N	777586	{26153442,30464555,29098786}	Inadequate	\N	CYP2C19*31 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C19*31 demonstrated decreased enzyme activity compared to wildtype with mephenytoin, omeprazole, voriconazole, and nebivolol substrates (26153442, 30464555, 29098786). Consensus was not achieved among experts as data were sparse and not consistent among substrates. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00019440125, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777589	314	CYP2C19	*32	\N	Uncertain function	\N	\N	777588	{26153442,30464555,29098786}	Inadequate	\N	CYP2C19*32 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C19*32 demonstrated enzyme activity ranging from decreased to similar activity compared to wildtype with various substrates (26153442, 30464555, 29098786). Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00017527216, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777591	314	CYP2C19	*33	\N	Uncertain function	\N	\N	777590	{26153442,30464555,29098786}	Inadequate	\N	CYP2C19*33 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C19*33 demonstrated decreased enzyme activity compared to wildtype with mephenytoin, omeprazole, and voriconazole substrates (26153442, 30464555, 29098786). Consensus was not achieved among experts as data were sparse and not consistent among substrates. Therefore, uncertain function was assigned	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00017527216, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777593	314	CYP2C19	*34	\N	Uncertain function	\N	\N	777592	{23799451}	Inadequate	\N	CYP2C19*34 is assigned uncertain function due to inadequate evidence. CYP2C19*34 was identified in a patient heterozygous for the CYP2C19*2 allele who experienced adverse effects with venlafaxine and a supratherapeutic nortriptyline level. CYP2C19 enzyme function was not adequately assessed as CYP2D6 is involved in metabolism of antidepressants such as nortriptyline and this patient was a CYP2D6 intermediate metabolizer (23799451). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777595	314	CYP2C19	*35	\N	No function	\N	\N	777594	{26021325}	Limited	\N	CYP2C19*35 is assigned no function based on limited evidence. CYP2C19*35 is defined by a splicing defect resulting in a truncated protein (26021325). This splicing defect is also found in CYP2C19*2 which definitively has no function. Although subjects with CYP2C19 *1/*35 did not demonstrate significantly decreased enzyme activity compared to wildtype based on urine metabolites after mephenytoin 100mg once (26021325), the experts did not find this result convincing due to the small sample size. Therefore, consensus among experts was no function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function and decreased function alleles.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.032099508, "African American/Afro-Caribbean": 0.015904458}	f
777597	314	CYP2C19	*36	\N	No function	\N	\N	777596	{31260137}	Limited	\N	CYP2C19*36 is assigned no function based on limited evidence. CYP2C19*36 is a complete deletion of the CYP2C19 gene and was identified by interrogation of multiple databases of clinical chromosomal microarray data (31260137). Therefore, because a gene deletion would not result in protein formation, consensus among experts was no function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function and decreased function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777599	314	CYP2C19	*37	\N	No function	\N	\N	777598	{31260137}	Limited	\N	CYP2C19*37 is assigned no function based on limited evidence. CYP2C19*37 is a partial deletion of the CYP2C19 gene and was identified by interrogation of multiple databases of clinical chromosomal microarray data (31260137). Therefore, because a partial gene deletion is not expected to result in a functional protein, consensus among experts was no function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function and decreased function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777531	314	CYP2C19	*38	\N	Normal function	\N	\N	777530	{2009263,32602114}	Definitve	\N	CYP2C19*38 is assigned normal function based on definitive evidence. CYP2C19*38 was originally catalogued as CYP2C19*1.001 (i.e. CYP2C19*1A) (2009263). Due to the standardized nomenclature system this allele received its own star designation and is now catalogued as CYP2C19*38 (32602114). Therefore, because CYP2C19*38 does not contain any single nucleotide polymorphisms and the new star designation was a result of nomenclature standardization, consensus among experts was normal function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778416	295	DPYD	c.1615G>A	Normal function	Normal function	\N	1.0	778415	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000013374884, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0041011903, "African American/Afro-Caribbean": 0.0031082802}	f
778418	297	DPYD	c.1627A>G (*5)	Normal function	Normal function	\N	1.0	778417	{23328581}	Strong	\N	5-fluorouracil (in vitro)	{"Latino": 0.3070716, "European": 0.19492984, "East Asian": 0.25466427, "Central/South Asian": 0.09372777, "Sub-Saharan African": 0.157875, "African American/Afro-Caribbean": 0.14005096}	f
778420	297	DPYD	c.1679T>G (*13)	No function	No function	\N	0.0	778419	{23328581}	Moderate	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.00055783015, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778422	295	DPYD	c.1682G>T	Normal function	Normal function	\N	1.0	778421	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.00010, "European": 0.000013742599, "East Asian": 0.0, "Central/South Asian": 0.00010, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778424	295	DPYD	c.1774C>T	No function	No function	\N	0.0	778423	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000013284529, "East Asian": 0.0015735973, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778426	295	DPYD	c.1775G>A	No function	No function	\N	0.0	778425	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778428	295	DPYD	c.1777G>A	No function	No function	\N	0.0	778427	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.00001365011, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778430	295	DPYD	c.1796T>C	Normal function	Normal function	\N	1.0	778429	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000090990965, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778432	295	DPYD	c.1896T>C	Normal function	Normal function	\N	1.0	778431	{23588312}	Moderate	\N	5-fluorouracil (ex vivo)	{"Latino": 0.08113257, "European": 0.03787994, "East Asian": 0.12373856, "Central/South Asian": 0.03587631, "Sub-Saharan African": 0.007970238, "African American/Afro-Caribbean": 0.03187898}	f
778434	295	DPYD	c.1898delC (*3)	No function	No function	\N	0.0	778433	{24648345}	Moderate	\N	5-fluorouracil (in vitro)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778438	295	DPYD	c.1905+1G>A (*2A)	No function	No function	\N	0.0	778437	{23328581}	Strong	This rsID, when combined with rs1801159, makes up DPYD*2B	5-fluorouracil (in vitro)	{"Latino": 0.00078298897, "European": 0.007917321, "East Asian": 0.0, "Central/South Asian": 0.005076194, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0031082802}	f
778436	295	DPYD	c.1905C>G	Normal function	Normal function	\N	1.0	778435	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000054979286, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778440	295	DPYD	c.1906A>C	Normal function	Normal function	\N	1.0	778439	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.00020, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778442	295	DPYD	c.1990G>T	Normal function	Normal function	\N	1.0	778441	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778444	295	DPYD	c.2021G>A	No function	No function	\N	0.0	778443	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778446	295	DPYD	c.2161G>A	Normal function	Normal function	\N	1.0	778445	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.00023592282, "European": 0.0001946586, "East Asian": 0.0, "Central/South Asian": 0.000089406414, "Sub-Saharan African": 0.0009821429, "African American/Afro-Caribbean": 0.0}	f
778448	295	DPYD	c.2186C>T	Normal function	Normal function	\N	1.0	778447	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.00001364734, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778450	295	DPYD	c.2194G>A (*6)	Normal function	Normal function	\N	1.0	778449	{23328581}	Moderate	\N	5-fluorouracil (in vitro)	{"Latino": 0.027319003, "European": 0.044963934, "East Asian": 0.018249057, "Central/South Asian": 0.09505568, "Sub-Saharan African": 0.02695635, "African American/Afro-Caribbean": 0.016}	f
778452	295	DPYD	c.2195T>G	Normal function	Normal function	\N	1.0	778451	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0019285714, "African American/Afro-Caribbean": 0.0}	f
777675	314	CYP2C9	*4	Decreased function	Decreased function	\N	0.5	777674	{23752738,21228733}	Limited	\N	CYP2C9*4 is assigned decreased function based on limited evidence in heterozygous patients and in vitro studies. One patient on a stable dose of warfarin with CYP2C9*1/*4 genotype required a lower weekly warfarin dose compared to CYP2C9*1/*1 patients (21228733). In an in vitro study CYP2C9*4 demonstrated 16% enzyme activity with a warfarin substrate and 22% enzyme activity with a tolbutamide substrate compared to wildtype. The CYP2C9*4 defining SNP occurs in the substrate recognition site which likely contributes to the loss of enzyme activity (23752738). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.0, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0011754684, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777677	314	CYP2C9	*5	Decreased function	Decreased function	\N	0.5	777676	{23752738,15289788,11455026,16220110,17504998,21811894,11901091}	Strong	\N	CYP2C9*5 is assigned decreased function based on strong evidence in heterozygous patients and in vitro studies. Three subjects carrying the CYP2C9*5 allele (CYP2C9*1/*5, CYP2C9*5/*6, CYP2C9*5/*8 genotype) had decreased losartan metabolism compared to wildtype based on urinary metabolites after a single 25mg dose (15289788). Two CYP2C9 *1/*5 subjects, one CYP2C9 *5/*6 subject, and one CYP2C9*5/*8 subject had lower phenytoin metabolism compared to wildtype based on urinary excretion of a phenytoin metabolite after a single 300mg dose. Additionally, the CYP2C9 *5/*6 subject demonstrated the lowest phenytoin metabolism as the only subject of the 109 subject cohort to have a urinary metabolite concentration below the limit of quantification (16220110). One CYP2C9 *5/*8 demonstrated the lowest acenocoumarol metabolism based on plasma concentrations in a 36 subject cohort (21811894). One CYP2C9*1/*5 subject demonstrated decreased indisulam metabolism with an AUC nearly two times greater than wildtype subjects (17504998). These results correlated with in vitro pharmacokinetic studies which demonstrated decreased clearance of warfarin, diclofenac, flurbiprofen, naproxen, and piroxicam compared to wildtype (11455026, 11901091). A separate in vitro study found CYP2C9*5 has decreased enzyme activity compared to wildtype with warfarin and tolbutamide substrates that (23752738). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on strong evidence.	{"Latino": 0.00871987, "American": 0.0014913112, "European": 0.00017448276, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.00052266667, "Central/South Asian": 0.0, "Sub-Saharan African": 0.010325842, "African American/Afro-Caribbean": 0.011626912}	f
777683	314	CYP2C9	*8	Decreased function	Decreased function	\N	0.5	777682	{23752738,22378156,23959274,16220110,21811894,23844998,24118918,25142737,25144335,25476996,25832633,25884291,25924705,27163851,27199745,25951663,24077631,15289788,28758225,23376925,15284535}	Definitive	\N	CYP2C9*8 is assigned decreased function based on definitive evidence in heterozygous patients and in vitro studies. Ten CYP2C9*1/*8 genotype patients on a stable warfarin dose had 28% lower S-warfarin clearance compared to wildtype patients which correlated with the in vitro kinetic study demonstrating the CYP2C9*8 protein had 30% reduced warfarin clearance compared to wildtype (22378156). The CYP2C9*8 allele was associated with decreased phenytoin metabolism in 19 subjects (CYP2C9*1/*8, CYP2C9*8/*9, CYP2C9*8/*11, or CYP2C9*5/*8) compared to wildtype subjects based on urinary excretion of a phenytoin metabolite after a single 300mg dose (16220110). Four CYP2C9*1/*8 subjects had decreased diclofenac metabolism compared to wildtype subjects based on the urinary metabolite ratio after a single 50mg dose (23959274). One in vitro study showed CYP2C9*8 had decreased mRNA expression compared to wildtype, resulting in decreased function and metabolism of substrates (23376925). Decreased metabolism of multiple substrates compared to wildtype was demonstrated in a series of in vitro studies (23752738, 27199745, 23844998, 24118918, 25142737, 25144335, 25476996, 25832633, 25884291, 25924705, 27163851, 25951663, 24077631). Although an in vitro study showed similar diclofenac metabolism compared to wildtype (22378156), the experts did not find this conflicting because four CYP2C9*1/*8 subjects exhibited decreased diclofenac metabolism as previously described (23959274). Additionally, the experts did not deem two in vitro studies where CYP2C9*8 demonstrated similar to increased enzyme activity compared to wildtype (28758225, 15284535) as conflicting evidence because both studies used the same system, and it could not be ruled out that these results which differed from the majority of in vitro studies were due to the specific system. Although six CYP2C9*1/*8 subjects had similar acenocoumarol metabolite plasma concentrations compared to wildtype subjects 8 and 24 hours after a single 8mg dose (21811894), the experts did not deem this result as conflicting evidence based on the small sample size. Similarly, two CYP2C9 *1/*8 subjects had a similar urinary losartan-metabolite ratio compared to wildtype after a single 25mg dose and the experts did not deem this result as convincing conflicting evidence based on the small sample size (15289788). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on definitive evidence.	{"Latino": 0.0073706377, "American": 0.020382864, "European": 0.0018053303, "Oceanian": null, "East Asian": 0.0037306643, "Near Eastern": 0.00064213155, "Central/South Asian": 0.0009815951, "Sub-Saharan African": 0.075846866, "African American/Afro-Caribbean": 0.059034664}	f
777689	314	CYP2C9	*11	Decreased function	Decreased function	\N	0.5	777688	{15284535,23752738,15289788,15970795,25951663,16220110,21811894,23844998,24118918,25142737,25144335,25476996,25832633,25884291,25924705,27163851,27199745,24077631}	Definitive	\N	CYP2C9*11 is assigned decreased function based on definitive evidence in heterozygous patients and in vitro studies. Four subjects carrying the CYP2C9*11 allele (n=3 CYP2C9*1/*11, n=1 CYP2C9*8/*11) demonstrated decreased phenytoin metabolism compared to wildtype subjects based on urinary excretion of a phenytoin metabolite after a single 300mg dose (16220110). Three CYP2C9*1/*11 patients on a stable dose of warfarin required a 33% lower warfarin dose compared to CYP2C9*1/*1 patients which correlated with the in vitro investigation where CYP2C9*11 had low levels of enzyme expression, decreased half-life, and 70% catalytic efficiency compared to wildtype; these results are suggestive of improper protein folding leading to decreased stability and reduced enzyme activity (15970795). An examination of the crystal structure showed the substitution which defines the CYP2C9*11 allele disrupts the sole extrahelical hydrogen bonding interaction, destabilizing the structure (15284535). In vitro studies showed CYP2C9*11 demonstrated decreased metabolism of tolbutamide, warfarin, glimepiride, carvedilol, fluoxetine, flurbiprofen, mestranol, diclofenac, and losartan compared to wildtype (15284535, 23752738, 24118918, 25476996, 25884291, 27199745, 25144335, 25924705, 25951663, 23844998). Although other in vitro studies showed CYP2C9*11 had similar activity compared to wildtype, the experts did not find these results convincing as in these studies CYP2C9*2 and/or CYP2C9*3 which definitively have decreased function and no function, respectively, also demonstrated similar activity compared to wildtype in these studies (25142737, 25832633, 27163851). The experts did not find the result of an in vitro study which showed CYP2C9*11 had similar activity compared to wildtype with a tolbutamide substrate (24077631) convincing because this result was not replicated as two separate in vitro studies which used two different systems and showed CYP2C9*11 demonstrated decreased clearance compared to wildtype, as described previously (15284535, 23752738). The experts also did not deem the results of a study which found no difference in losartan metabolism among four subjects carrying the CYP2C9*11 allele nor a study which found no difference in acenocoumarol metabolism among one subject with CYP2C9*1/*11 genotype as convincing conflicting evidence due to the small sample size (15289788, 21811894). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on definitive evidence.	{"Latino": 0.002901849, "American": 0.0028040742, "European": 0.0016443896, "Oceanian": null, "East Asian": 0.00029316536, "Near Eastern": 0.0, "Central/South Asian": 0.0010429447, "Sub-Saharan African": 0.025685642, "African American/Afro-Caribbean": 0.013860963}	f
777691	314	CYP2C9	*12	Decreased function	Decreased function	\N	0.5	777690	{15284535,23752738,28758225,23688605}	Limited	\N	CYP2C9*12 is assigned decreased function based on limited evidence in heterozygous patients and in vitro studies. Four patients on a stable dose of warfarin with CYP2C9*1/*12 genotype required a lower weekly warfarin dose compared to CYP2C9*1/*1 patients (23688605). In vitro studies similarly found CYP2C9*12 demonstrated decreased enzyme activity with warfarin and tolbutamide substrates compared to wildtype (23752738, 15284535, 28758225). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00041809047, "Near Eastern": 0.001, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778454	295	DPYD	c.2279C>T	Decreased function	Decreased function	\N	0.5	778453	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0060296794, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778484	295	DPYD	c.2977C>T	Normal function	Normal function	\N	1.0	778483	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0005154524, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777693	314	CYP2C9	*13	Decreased function	No function	\N	0.0	777692	{23752738,16308280,15764711,25951663,19541829,16740353,20814155,19604036,21395648,21726410,21842338,22735459,23844998,24118918,24464553,25142737,25476996,25614704,25832633,25884291,27163851,25144335,27377818,27864660,15606435,24077631}	Definitive	\N	CYP2C9*13 is assigned no function based on definitive evidence in heterozygous patients. Subjects with CYP2C9*1/*13 genotype repeatedly demonstrated decreased clearance and increased AUC compared to wildtype subjects and similar clearance and AUC compared to CYP2C9*1/*3 subjects in multiple studies with different substrates (19604036, 21395648, 21726410, 21842338, 22735459, 27377818, 27864660, 15606435). Two studies correlated in vitro data with clinical data and also found increased AUC and decreased clearance compared to wildtype with lornoxicam and tolbutamide (15764711, 25614704). Additionally, a CYP2C9*3/*13 subject had a greater decrease in tolbutamide clearance compared to the CYP2C9*1/*13 subject (25614704). This was also demonstrated in another CYP2C9*3/*13 subject with decreased lornoxicam clearance and increased AUC compared to wildtype, CYP2C9 *1/*3, and CYP2C9*1/*2 subjects (15606435). Multiple in vitro studies demonstrate CYP2C9*13 exhibits decreased metabolism comparable to that observed for CYP2C9*3 for numerous substrates (23844998, 24118918, 24464553, 25142737, 25476996, 25832633, 25884291, 27163851, 24077631, 25951663, 19541829, 20814155, 23752738, 16308280, 25144335) and one model suggests the decreased metabolism across substrates is due to a side chain rotation which blocks the catalytic site (16740353). Therefore, consensus among experts was no function with an activity value of 0 based on definitive evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0033167014, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
777695	314	CYP2C9	*14	Decreased function	Decreased function	\N	0.5	777694	{16099926,23844998,24118918,25142737,25144335,25476996,25951663,25832633,25884291,25924705,27163851,24077631,24956244,19077919,15371982,23752738}	Moderate	\N	CYP2C9*14 is assigned decreased function based on moderate evidence in heterozygous patients and in vitro studies. Separate studies of patients on a stable dose of warfarin with CYP2C9 *1/*14 genotype required a lower warfarin dose compared to CYP2C9*1/*1 patients (24956244, 19077919, 15371982). The VKORC1 and CYP4F2 variants associated with increased warfarin dose requirements were also observed in one of these patients which further suggested decreased warfarin metabolism and warfarin dose was due to the CYP2C9 *1/*14 genotype (24956244). In vitro studies similarly found CYP2C9*14 demonstrated decreased clearance of warfarin, phenytoin, tolbutamide, glimepiride, carvedilol, propofol, flurbiprofen, mestranol, diclofenac, and losartan (23752738, 27163851, 16099926, 24077631, 24118918, 25476996, 25832633, 25144335, 25924705, 25951663, 23844998). Although two in vitro studies showed CYP2C9*14 had similar activity compared to wildtype, the experts did not find these results convincing as in these studies CYP2C9*2 and/or CYP2C9*3 which definitively have decreased function and no function, respectively, demonstrated increased activity compared to wildtype in these studies (25142737, 25884291). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on moderate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00033588216, "Near Eastern": 0.001, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777697	314	CYP2C9	*15	No function	No function	\N	0.0	777696	{16099926,23752738}	Limited	\N	CYP2C9*15 is assigned no function based on limited evidence. CYP2C9*15 is defined by a nonsense mutation which results in a premature stop codon resulting in a significant truncation of the protein. In an in vitro study, CYP2C9*15 did not result in detectable protein expression (16099926). CYP2C9*15 was not included in subsequent in vitro studies because it is a null allele resulting in no protein formation (23752738). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
777699	314	CYP2C9	*16	Decreased function	Decreased function	\N	0.5	777698	{16099926,24077631,24118918,24464553,25142737,25951663,25144335,25476996,25614704,25832633,25884291,25924705,27163851,23844998}	Limited	\N	CYP2C9*16 is assigned decreased function based on limited evidence in a heterozygous patient and in vitro studies. One subject with CYP2C9*1/*16 genotype exhibited decreased clearance compared to wildtype subjects based on tolbutamide plasma concentrations after one 500mg dose. This result correlated with the in vitro study where CYP2C9*16 demonstrated similar enzyme expression but 3.4% enzyme activity with a tolbutamide substrate compared to wildtype (25614704). Multiple in vitro studies similarly found CYP2C9*16 demonstrated decreased clearance with various substrates compared to wildtype (16099926, 24077631, 24118918, 24464553, 25951663, 25144335, 25476996, 25832633, 25884291, 25924705, 27163851, 23844998). Although one in vitro study showed CYP2C9*16 had similar activity compared to wildtype, the experts did not find this result convincing as in this study CYP2C9*2 and CYP2C9*3 which definitively have decreased function and no function, respectively, demonstrated increased activity compared to wildtype (25142737). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.001877621, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777701	314	CYP2C9	*17	Uncertain function	Uncertain function	\N	n/a	777700	{23752738,16099926}	Inadequate evidence	\N	CYP2C9*17 is assigned uncertain function based on inadequate evidence due to conflicting in vitro data and no clinical data. In an in vitro study CYP2C9*17 demonstrated 32% warfarin clearance compared to wildtype, however, similar tolbutamide clearance compared to wildtype was demonstrated in the same study as well as a separate study (23752738, 16099926). Therefore, consensus among experts was not achieved and uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777703	314	CYP2C9	*18	Uncertain function	Uncertain function	\N	n/a	777702	{23752738,16099926}	Inadequate evidence	\N	CYP2C9*18 is assigned uncertain function due to inadequate evidence. In one in vitro study, CYP2C9*18 protein expression could not be detected in an E.coli system (16099926). CYP2C9*18 protein expression was detected in a separate study using COS-7 cells and no enzyme activity was detected with warfarin and tolbutamide substrates (23752738). Therefore, consensus among experts was uncertain function due to insufficient evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777711	314	CYP2C9	*22	Uncertain function	Uncertain function	\N	n/a	777710	{23752738}	Inadequate evidence	\N	CYP2C9*22 is assigned uncertain function due to inadequate evidence. In one in vitro study, CYP2C9*22 demonstrated decreased enzyme activity compared to wildtype with a warfarin and tolbutamide substrate (23752738). Therefore, consensus among experts was uncertain function due to insufficient evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777713	314	CYP2C9	*23	Decreased function	Decreased function	\N	0.5	777712	{23752738,23844998,24118918,25951663,25142737,25144335,25476996,25832633,25884291,25924705,27163851,24077631}	Limited	\N	CYP2C9*23 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*23 demonstrated decreased clearance compared to wildtype (23844998, 24118918, 25144335, 25476996, 23752738, 25832633, 25884291, 25924705, 24077631). Although three in vitro studies showed CYP2C9*23 had similar activity compared to wildtype, the experts did not find these results convincing as in these studies CYP2C9*2 which definitively has decreased function, demonstrated increased or similar activity compared to wildtype in these studies (25142737, 25951663, 27163851). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0002119417, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777715	314	CYP2C9	*24	No function	No function	\N	0.0	777714	{23752738,17332144,16543980}	Limited	\N	CYP2C9*24 is assigned decreased function based on limited evidence in a heterozygous patient and in vitro studies. A patient on a stable dose of warfarin with CYP2C9 *2/*24 genotype had the lowest daily warfarin dose requirement and warfarin clearance based on plasma concentrations compared to patients with CYP2C9 *1/*2 genotype and matched for age, warfarin indication and co-administrated medications (16543980). An in vitro study similarly found CYP2C9*24 exhibited no enzyme activity with warfarin or tolbutamide substrates (23752738). No CYP2C9*24 protein was detected in a separate in vitro study suggesting the enzyme may be improperly folded (17332144). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777725	314	CYP2C9	*29	Decreased function	Decreased function	\N	0.5	777724	{23752738,16788382,23844998,24118918,25142737,25951663,25144335,25476996,25614704,25832633,25884291,25924705,27163851,24077631}	Limited	\N	CYP2C9*29 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*29 demonstrated decreased clearance compared to wildtype (23752738, 23844998, 24118918, 25951663, 25144335, 25476996, 25832633, 25884291, 25924705, 24077631). Although two in vitro studies showed CYP2C9*29 had similar activity compared to wildtype, the experts did not find these results convincing as in these studies CYP2C9*2 which definitively has decreased function, demonstrated increased or similar activity compared to wildtype in these studies (25142737, 27163851). Other studies, however, also showed CYP2C9*29 has similar clearance compared to wildtype (16788382, 25614704). Although the experts recognized there is conflicting evidence, the experts did not find it convincing as it was determined the activity of CYP2C9*29 toward most substrates was similar to CYP2C9*2 which definitively has decreased function. Therefore, consensus among experts was decreased function with an activity value of 0.5.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0022081658, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777729	314	CYP2C9	*31	Decreased function	Decreased function	\N	0.5	777728	{23752738,24118918,23844998,25142737,25144335,25951663,25476996,25832633,25884291,25924705,27163851,27199745,24077631}	Limited	\N	CYP2C9*31 is assigned decreased function based on limited evidence. Multiple in vitro studies using different cell systems found CYP2C9*31 demonstrated decreased clearance for numerous substrates compared to wildtype (23752738, 24118918, 23844998, 25144335, 25951663, 25476996, 25832633, 25884291, 27163851, 25924705, 27199745, 24077631). Although one in vitro study showed CYP2C9*31 had similar activity compared to wildtype, the experts did not find this result convincing as in this study CYP2C9*2 and CYP2C9*3 which definitively have decreased function and no function, respectively, demonstrated increased activity compared to wildtype (25142737). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0016030075, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777731	314	CYP2C9	*32	Uncertain function	Uncertain function	\N	n/a	777730	{23752738}	Inadequate evidence	\N	CYP2C9*32 is assigned uncertain function due to inadequate evidence. In one in vitro study, CYP2C9*32 demonstrated similar enzyme activity compared to wildtype with a warfarin and tolbutamide substrate (23752738). Therefore, consensus among experts was uncertain function due to insufficient evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778482	295	DPYD	c.2978T>G	Normal function	Normal function	\N	1.0	778481	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0019285714, "African American/Afro-Caribbean": 0.0}	f
778486	295	DPYD	c.2983G>T (*10)	No function	No function	\N	0.0	778485	{24648345}	Moderate	\N	5-fluorouracil (in vitro)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778488	295	DPYD	c.3049G>A	Normal function	Normal function	\N	1.0	778487	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.00001364737, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777733	314	CYP2C9	*33	Decreased function	No function	\N	0.0	777732	{23752738,18971529,23844998,24118918,25142737,25951663,25144335,25476996,25832633,25884291,27163851,19541829,24077631}	Limited	\N	CYP2C9*33 is assigned no function based on limited evidence. Multiple in vitro studies using different cell systems found CYP2C9*33 demonstrated decreased clearance for numerous substrates compared to wildtype and similar clearance compared to CYP2C9*3 which definitively has no function (23752738, 18971529, 23844998, 24118918, 25142737, 25951663, 25144335, 25476996, 25832633, 25884291, 27163851, 19541829, 24077631). Although one patient with CYP2C9 *1/*33 genotype had their blood pressure lowered with losartan, the experts did not find this result convincing due to the small sample size (18971529). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00065227173, "Near Eastern": 0.001, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777735	314	CYP2C9	*34	Uncertain function	Uncertain function	\N	n/a	777734	{23752738,18971529,19541829,23844998,24118918,25142737,25144335,25951663,25476996,25614704,25832633,25884291,25924705,27163851,24077631}	Inadequate evidence	\N	CYP2C9*34 is assigned uncertain function due to inadequate evidence. Although one subject with CYP2C9*1/*34 genotype exhibited decreased clearance compared to wildtype subjects based on tolbutamide plasma concentrations after one 500mg dose (25614704), in vitro studies found CYP2C9*34 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (23752738, 18971529, 23844998, 19541829, 24118918, 25142737, 25476996, 25614704, 25832633, 25884291, 25924705, 27163851, 24077631, 25144335, 25951663). Consensus was not achieved among experts and therefore uncertain function was assigned..	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0002119417, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777737	314	CYP2C9	*35	No function	No function	\N	0.0	777736	{23752738,24322786,2145143}	Limited	\N	CYP2C9*35 is assigned no function based on limited evidence in one heterozygous subject and in vitro studies. CYP2C9*35 was first described in a patient requiring a very low weekly warfarin dose of 2.25mg (2145143). No variant was observed in VKORC1 or CYP4F2 in this patient and a subsequent in silico study showed a decreased interaction with reductase resulting in impaired enzyme activity. In vitro studies similarly found CYP2C9*35 demonstrated no enzyme activity with warfarin, tolbutamide, and diclofenac substrates (23752738, 24322786). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777743	314	CYP2C9	*38	Decreased function	Decreased function	\N	0.5	777742	{24077631,24118918,25142737,25144335,25951663,25476996,25832633,25884291,25924705,27163851,28758225,23844998}	Limited	\N	CYP2C9*38 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*38 demonstrated decreased clearance compared to wildtype for multiple substrates (24077631, 24118918, 25144335, 25951663, 25476996, 25832633, 25884291, 25924705, 23844998). Although two in vitro studies showed CYP2C9*38 had similar activity compared to wildtype, the experts did not find these results convincing as in these studies CYP2C9*2 which definitively has decreased function, demonstrated increased activity and similar activity compared to wildtype in these studies (25142737, 27163851). Additionally, the experts did not deem an in vitro study where CYP2C9*38 demonstrated activity ranging from decreased to increased compared to wildtype with 7-ethoxycoumarin, flavanone, and steroid substrates (28758225) as convincing evidence because it could not be ruled out that these results which differed from the majority of in vitro studies were due to the specific system used in the study. Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777745	314	CYP2C9	*39	No function	No function	\N	0.0	777744	{24077631,24118918,25142737,25144335,25476996,25832633,25951663,25884291,27163851,23844998}	Limited	\N	CYP2C9*39 is assigned no function based on limited evidence. Multiple in vitro studies found CYP2C9*39 demonstrated decreased clearance with numerous substrates compared to wildtype (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25951663, 25884291, 27163851, 23844998). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function or decreased function alleles.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777747	314	CYP2C9	*40	Uncertain function	Uncertain function	\N	n/a	777746	{24077631,24118918,25142737,25951663,25144335,25476996,25614704,25832633,25884291,25924705,27163851,28758225,23844998}	Inadequate evidence	\N	CYP2C9*40 is assigned uncertain function due to inadequate evidence in one heterozygous subject and in vitro studies. One subject with CYP2C9 *1/*40 genotype exhibited decreased AUC and half-life but similar oral clearance compared to wildtype subjects based on tolbutamide plasma concentrations after one 500mg dose (25614704). In vitro studies found CYP2C9*40 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24077631, 24118918, 23844998, 25142737, 25144335, 25951663, 25476996, 25832633, 25884291, 25924705, 27163851, 28758225, 25614704). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779093	103	NUDT15	*15	\N	\N	\N	\N	779092	\N	\N	\N	\N	\N	f
777749	314	CYP2C9	*41	Uncertain function	Uncertain function	\N	n/a	777748	{24077631,24118918,25142737,25951663,25144335,25476996,25614704,25832633,25884291,25924705,27163851,23844998}	Inadequate evidence	\N	CYP2C9*41 is assigned uncertain function due to inadequate evidence in one heterozygous subject and in vitro studies. One subject with CYP2C9 *1/*41 genotype exhibited increased AUC but similar oral clearance compared to wildtype subjects based on tolbutamide plasma concentrations after one 500mg dose (25614704). In vitro studies found CYP2C9*41 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25951663, 25476996, 25832633, 25884291, 25924705, 27163851, 23844998, 25614704). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777759	314	CYP2C9	*46	Decreased function	Decreased function	\N	0.5	777758	{24077631,24118918,25142737,25144335,25476996,25614704,25832633,25884291,25951663,25924705,27163851,23844998}	Limited	\N	CYP2C9*46 is assigned decreased function based on limited evidence in one heterozygous patient and in vitro studies. One subject with CYP2C9*1/*46 genotype exhibited increased AUC and decreased oral clearance compared to wildtype subjects based on tolbutamide plasma concentrations after one 500mg dose (25614704). Multiple in vitro studies found CYP2C9*46 demonstrated decreased clearance compared to wildtype with various substrates (24077631, 24118918, 25476996, 25832633, 25884291, 25951663, 25924705, 23844998, 25614704). Although two in vitro studies showed CYP2C9*46 had similar activity compared to wildtype, the experts did not find these results convincing as in these studies CYP2C9*2 which definitively has decreased function, demonstrated increased or similar activity compared to wildtype in these studies (25142737, 27163851). An additional in vitro study showed CYP2C9*46 had similar activity compared to wildtype (25144335), however, the experts did not find this result convincing as the function of CYP2C9*46 in vivo and in vitro demonstrated decreased function toward the majority of substrates. Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777763	314	CYP2C9	*48	Uncertain function	Uncertain function	\N	n/a	777762	{24077631,24118918,25142737,25144335,25476996,25614704,25832633,25884291,25951663,25924705,27163851,23844998}	Inadequate evidence	\N	CYP2C9*48 is assigned uncertain function due to inadequate evidence in one heterozygous subject and in vitro studies. One subject with CYP2C9 *1/*48 genotype exhibited increased AUC and decreased oral clearance compared to wildtype subjects based on tolbutamide plasma concentrations after one 500mg dose (25614704). In vitro studies found CYP2C9*48 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25884291, 25951663, 25924705, 27163851, 23844998, 25614704). Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777771	314	CYP2C9	*52	No function	No function	\N	0.0	777770	{24077631,24118918,25142737,25144335,25476996,25832633,25951663,25884291,25924705,27163851,23844998}	Limited	\N	CYP2C9*52 is assigned no function based on limited evidence in in vitro studies. Multiple in vitro studies found CYP2C9*52 demonstrated markedly decreased clearance compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25951663, 25884291, 25924705, 27163851, 23844998). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function or decreased function alleles.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777773	314	CYP2C9	*53	Uncertain function	Uncertain function	\N	n/a	777772	{24077631,24118918,25142737,25144335,25476996,25832633,25884291,25951663,25924705,27163851,23844998}	Inadequate evidence	\N	CYP2C9*53 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C9*53 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25951663, 25884291, 25924705, 27163851, 23844998). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777775	314	CYP2C9	*54	Uncertain function	Uncertain function	\N	n/a	777774	{24077631,24118918,25142737,25144335,25476996,25832633,25884291,25951663,25924705,27163851,23844998}	Inadequate evidence	\N	CYP2C9*54 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C9*54 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25951663, 25884291, 25924705, 27163851, 23844998). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778490	295	DPYD	c.3061G>C	Normal function	Normal function	\N	1.0	778489	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000090985195, "East Asian": 0.0, "Central/South Asian": 0.00010, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778492	295	DPYD	c.3067C>A	Normal function	Normal function	\N	1.0	778491	{23588312}	Limited	\N	5-fluorouracil (ex vivo)	{"Latino": 0.00089275226, "European": 0.000013283348, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.034825396, "African American/Afro-Caribbean": 0.044617835}	f
777777	314	CYP2C9	*55	Decreased function	Decreased function	\N	0.5	777776	{24077631,24118918,25142737,25144335,25476996,25832633,25884291,25951663,25924705,27163851,23844998}	Limited	\N	CYP2C9*55 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*55 demonstrated decreased clearance compared to wildtype (24077631, 24118918, 25144335, 25476996, 25832633, 25951663, 25924705, 27163851, 23844998). Although two in vitro studies showed CYP2C9*55 had similar or increased activity compared to wildtype, the experts did not find these results convincing as in these studies CYP2C9*3 which definitively has no function, demonstrated increased or similar activity compared to wildtype in these studies (25142737, 25884291). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0104, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777779	314	CYP2C9	*56	Uncertain function	Uncertain function	\N	n/a	777778	{24077631,24118918,25142737,25144335,25476996,25832633,25884291,25951663,25924705,27163851,23844998}	Inadequate evidence	\N	CYP2C9*56 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C9*56 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25951663, 25884291, 25924705, 27163851, 23844998). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777783	314	CYP2C9	*58	Decreased function	Uncertain function	\N	n/a	777782	{25142737,25075423,25884291}	Inadequate evidence	\N	CYP2C9*58 is assigned uncertain function due to inadequate evidence. CYP2C9*58 was first described in a patient requiring a low weekly warfarin dose of 9mg (25075423). No variant was observed in VKORC1 or CYP4F2 in this patient and a subsequent in silico study showed changes in hydrogen bonding which may affect the secondary structure of the protein. In vitro studies found CYP2C9*58 demonstrated decreased enzyme activity with multiple substrates (25142737, 25075423, 25884291). Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777785	314	CYP2C9	*59	Decreased function	Uncertain function	\N	n/a	777784	{25142737,25994031,25884291}	Inadequate evidence	\N	CYP2C9*59 is assigned uncertain function due to inadequate evidence. CYP2C9*59 was first described in a patient requiring a low daily warfarin dose of 1.5mg (25994031). No variant was observed in VKORC1 or CYP4F2 in this patient and a subsequent in silico study showed destabilization of the interaction with the heme group may cause reduction in catalytic activity in this allele. In vitro studies found CYP2C9*59 demonstrated decreased enzyme activity with multiple substrates (25142737, 25994031, 25884291). Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777787	314	CYP2C9	*60	Decreased function	Uncertain function	\N	n/a	777786	{25142737,26255664,25884291}	Inadequate evidence	\N	CYP2C9*60 is assigned uncertain function due to inadequate evidence. CYP2C9*60 was first described in a patient requiring a low daily warfarin dose of 1.5mg (26255664). In vitro studies found CYP2C9*60 demonstrated enzyme activity ranging from decreased to similar activity compared to wildtype with various substrates (25142737, 26255664, 25884291). Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777789	314	CYP2C9	*61	Decreased function	Decreased function	\N	0.5	777788	{30518301}	Limited	\N	CYP2C9*61 is assigned decreased function based on limited evidence in a heterozygous patient. CYP2C9*61 was first described in a patient requiring a low daily warfarin dose of 3mg (30518301). CYP2C9*61 is defined by two SNPs, one of which is the defining SNP for CYP2C9*2. Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the function of this allele is similar to CYP2C9*2 and phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777791	296	CYP2C9	*62	No function	Uncertain function	\N	n/a	777790	{32531309}	Inadequate evidence	\N	CYP2C9*62 is assigned uncertain funciton due to inadequate evidence. One in vitro study found the protein expression of CYP2C9*62 was significantly lower than that of the wild-type, and its metabolic activity was also significantly decreased after the addition of three typical CYP2C9 probe drugs (tolbutaminde, losartan, and diclofenac), suggesting that the new mutant can dramatically affect the metabolism of CYP2C9 drugs in vitro (32531309). Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": 0.00010, "American": null, "European": 0.00010, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777793	296	CYP2C9	*63	Uncertain function	Uncertain function	\N	n/a	777792	{33536773}	Inadequate evidence	\N	CYP2C9*63 is assigned uncertain funciton due to inadequate evidence. The nonsynonymous variants present in CYP2C9*63 is predicted to be deleterious in both SIFT and Polyphen predictions. There are no in vitro or clinical studies reported. Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.00050, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777795	296	CYP2C9	*64	Uncertain function	Uncertain function	\N	n/a	777794	{33536773}	Inadequate evidence	\N	CYP2C9*64 is assigned uncertain funciton due to inadequate evidence. The nonsynonymous variants present in CYP2C9*64 is predicted to be deleterious in both SIFT and Polyphen predictions. There are no in vitro or clinical studies reported. Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777797	296	CYP2C9	*65	Uncertain function	Uncertain function	\N	n/a	777796	{33536773}	Inadequate evidence	\N	CYP2C9*65 is assigned uncertain funciton due to inadequate evidence. The nonsynonymous variant present in CYP2C9*65 is predicted to be deleterious in both SIFT and Polyphen predictions. There are no in vitro or clinical studies reported. Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777799	296	CYP2C9	*66	Uncertain function	Uncertain function	\N	n/a	777798	{33536773}	Inadequate evidence	\N	CYP2C9*66 is assigned uncertain funciton due to inadequate evidence. The nonsynonymous variant present in CYP2C9*66 is predicted to be tolerated in SIFT and benign in Polyphen predictions. There are no in vitro or clinical studies reported. Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.00080, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777801	296	CYP2C9	*67	Uncertain function	Uncertain function	\N	n/a	777800	{33536773}	Inadequate evidence	\N	CYP2C9*67 is assigned uncertain funciton due to inadequate evidence. The nonsynonymous variants present in CYP2C9*67 are predicted to be deleterious in both SIFT and Polyphen predictions. There are no in vitro or clinical studies reported. Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": 0.00010, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.00020, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777803	296	CYP2C9	*68	Uncertain function	Uncertain function	\N	n/a	777802	{33536773}	Inadequate evidence	\N	CYP2C9*68 is assigned uncertain funciton due to inadequate evidence. The nonsynonymous variants present in CYP2C9*68 are predicted to be deleterious in SIFT and and benign in Polyphen predictions. There are no in vitro or clinical studies reported. Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777805	296	CYP2C9	*69	Uncertain function	Uncertain function	\N	n/a	777804	{33536773}	Inadequate evidence	\N	CYP2C9*69 is assigned uncertain funciton due to inadequate evidence. The nonsynonymous variant present in CYP2C9*69 is predicted to be deleterious in both SIFT and Polyphen predictions. There are no in vitro or clinical studies reported. Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1406318	296	CYP2C9	*73	Unknown function	Unknown function	\N	n/a	1406317	{}	No evidence	\N	CYP2C9*73 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": 0.0, "American": null, "European": 0.00010, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.00040, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1406320	296	CYP2C9	*74	Unknown function	Unknown function	\N	n/a	1406319	{}	No evidence	\N	CYP2C9*74 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1406322	296	CYP2C9	*75	Unknown function	Unknown function	\N	n/a	1406321	{}	No evidence	\N	CYP2C9*75 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778713	266	G6PD	A- 202A_376G	III/Deficient	III/Deficient	\N	\N	778712	{22293322,32387609,2572288}	strong	\N	Function assigned based on the WHO recommendations included in PMID 22293322. Additional in vitro (32387609) and the presence of this variant in G6PD deficient males (2572288) supports this classificaiton.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778749	266	G6PD	A- 680T_376G	III/Deficient	III/Deficient	\N	\N	778748	{22293322,32387609,2572288}	strong	\N	Function assigned based on the WHO recommendations included in PMID 22293322. Additional in vitro (32387609) and the presence of this variant in G6PD deficient males (2572288) supports this classificaiton.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778751	266	G6PD	A- 968C_376G	III/Deficient	III/Deficient	\N	\N	778750	{22293322,32387609,2572288}	strong	\N	Function assigned based on the WHO recommendations included in PMID 22293322. Additional in vitro (32387609) and the presence of this variant in G6PD deficient males (2572288) supports this classificaiton.	{"Latino": 0.0007489835, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0054458817}	f
778917	266	G6PD	Aachen	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778916	{22293322,10772881,1270075}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322. Originally found in 4 male patients with hemolysis in the same family [PMID1270075], it was reported again in 3 male patients [PMID10772881]. This nucleic acid change results in the same amino acid change as the Loma Linda variant (Asn363Lys).	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779688	262	CYP2D6	*1x2	\N	Increased function	\N	2.0	777936	{7616439,9012401}	Limited	\N	CYP2D6*1x2 is assigned increased function based on limited evidence. Subjects with CYP2D6 gene duplications demonstrated increased enzyme activity with the greatest debrisoquine metabolism among 270 subjects based on urine metabolites (7616439). Additionally, debrisoquine metabolism correlated with the number of functional CYP2D6 genes (7616439, 9012401). Therefore, consensus among experts was increased function with an activity value of 2 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.015091962, "American": 0.025994705, "European": 0.008242789, "Oceanian": 0.118886255, "East Asian": 0.0033543645, "Near Eastern": 0.031482305, "Central/South Asian": 0.005793713, "Sub-Saharan African": 0.0057788896, "African American/Afro-Caribbean": 0.007974796}	f
1777304	232	CYP2D6	*1x≥3	\N	Increased function	\N	≥3.0	777936	{7616439,9012401}	Limited	\N	CYP2D6*1x≥3 is assigned increased function based on limited evidence. Subjects with CYP2D6 gene duplications demonstrated increased enzyme activity with the greatest debrisoquine metabolism among 270 subjects based on urine metabolites (7616439). Additionally, debrisoquine metabolism correlated with the number of functional CYP2D6 genes (7616439, 9012401). Therefore, consensus among experts was increased function with an activity value of ≥3 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.00050, "American": 0.001, "European": 0.0006873065, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.002, "African American/Afro-Caribbean": 0.0}	f
777939	310	CYP2D6	*2	\N	Normal function	\N	1.0	777938	{7903454,11037799,11266079,12915955,18784265,20456744,24647041,25469868,26310775,26542054,26652007,26937172,26968424,27203132,27251229,27354764,27538917,30366777}	Moderate	\N	CYP2D6*2 is assigned normal function based on moderate evidence. CYP2D6*2 has consistently been described in subjects demonstrating similar metabolism with various CYP2D6 substrates compared to wildtype (7903454, 11037799, 12915955, 20456744). Although in vitro studies found CYP2D6*2 had enzyme activity ranging from similar to decreased activity compared to wildtype, the in vitro data was not convincing as the differences in results may be due to differences in the expression system used (11266079, 18784265, 24647041, 25469868, 26310775, 26542054, 26652007, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917, 30366777). Therefore, consensus among experts was normal function with an activity value of 1 based on moderate evidence.	{"Latino": 0.22684056, "American": 0.217449, "European": 0.18536054, "Oceanian": 0.0611197, "East Asian": 0.1191732, "Near Eastern": 0.19004925, "Central/South Asian": 0.27445427, "Sub-Saharan African": 0.1738963, "African American/Afro-Caribbean": 0.15468602}	f
779691	259	CYP2D6	*2x2	\N	Increased function	\N	2.0	777938	{7616439,7903454,8764380}	Limited	\N	CYP2D6*2x2 is assigned increased function based on limited evidence. CYP2D6*2x2 was described in a family demonstrating increased enzyme activity based on urine metabolites with a debrisoquine substrate (7903454). Subjects with CYP2D6 gene duplications demonstrated increased enzyme activity with the greatest debrisoquine metabolism among all subjects (7616439, 8764380). Therefore, consensus among experts was increased function with an activity value of 2 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.011836204, "American": 0.0060559562, "European": 0.008509548, "Oceanian": 0.0, "East Asian": 0.0045895264, "Near Eastern": 0.03314872, "Central/South Asian": 0.0069125737, "Sub-Saharan African": 0.018582173, "African American/Afro-Caribbean": 0.01866399}	f
1777307	232	CYP2D6	*2x≥3	\N	Increased function	\N	≥3.0	777938	{7616439,7903454,8764380}	Limited	\N	CYP2D6*2x≥3 is assigned increased function based on limited evidence. CYP2D6*2x≥3 was described in a family demonstrating increased enzyme activity based on urine metabolites with a debrisoquine substrate (7903454). Subjects with CYP2D6 gene duplications demonstrated increased enzyme activity with the greatest debrisoquine metabolism among all subjects (7616439, 8764380). Therefore, consensus among experts was increased function with an activity value of ≥3 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.00050, "American": 0.0, "European": 0.001, "Oceanian": null, "East Asian": 0.001, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.003, "African American/Afro-Caribbean": 0.0}	f
777941	310	CYP2D6	*3	\N	No function	\N	0.0	777940	{2211621}	Limited	\N	CYP2D6*3 is assigned no function based on limited evidence. CYP2D6*3 was first described in a heterozygous subject demonstrating decreased sparteine metabolism based on an elevated urinary metabolite ratio. CYP2D6*3 is defined by a single nucleotide deletion causing a frameshift and resulting in a nonfunctional protein (2211621). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": 0.0071793622, "American": 0.000654978, "European": 0.015922716, "Oceanian": 0.0010404624, "East Asian": 0.0000556167, "Near Eastern": 0.0043491097, "Central/South Asian": 0.0012986185, "Sub-Saharan African": 0.0009698735, "African American/Afro-Caribbean": 0.0032821998}	f
779694	258	CYP2D6	*3x2	\N	No function	\N	0.0	777940	{2211621}	Limited	\N	CYP2D6*3x2 is assigned no function based on limited evidence. CYP2D6*3 is defined by a single nucleotide deletion causing a frameshift and resulting in a nonfunctional protein and is assigned no function (2211621). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would be clinically similar to phenotypes comprising the nonduplicated allele.	{"Latino": 0.00050, "American": null, "European": 0.00010, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
778963	266	G6PD	Abeno	II/Deficient	II/Deficient	\N	\N	778962	{22293322,22963789,1945893,11271380}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
777943	310	CYP2D6	*4	\N	No function	\N	0.0	777942	{2211621,11266079,1978251,1978565}	Strong	\N	CYP2D6*4 is assigned no function based on strong evidence. CYP2D6*4 has consistently been described in subjects demonstrating decreased metabolism of various CYP2D6 substrates (2211621, 11266079, 1978251, 1978565). Two in vitro studies found CYP2D6*4 had undetectable protein expression (2211621, 11266079). CYP2D6*4 is defined by a splicing defect resulting in a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on strong evidence.	{"Latino": 0.12051356, "American": 0.10194215, "European": 0.1848476, "Oceanian": 0.017797798, "East Asian": 0.005269325, "Near Eastern": 0.11405941, "Central/South Asian": 0.089567736, "Sub-Saharan African": 0.028676093, "African American/Afro-Caribbean": 0.048111428}	f
1777311	232	CYP2D6	*4x2	\N	No function	\N	0.0	777942	{10022755,12152006}	Moderate	\N	CYP2D6*4x2 is assigned no function based on moderate evidence. CYP2D6*4x2 has been described in subjects demonstrating decreased metabolism of dextromethorphan or debrisoquine (10022755, 12152006). CYP2D6*4 is defined by a splicing defect resulting in a nonfunctional protein and gene duplication would therefore not impact enzyme activity. Therefore, consensus among experts was no function with an activity value of 0 based on moderate evidence.	{"Latino": 0.0040316023, "American": 0.0010676404, "European": 0.0065507535, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0032411083, "Central/South Asian": 0.00047151276, "Sub-Saharan African": 0.019609926, "African American/Afro-Caribbean": 0.026700884}	f
1777312	232	CYP2D6	*4x≥3	\N	No function	\N	0.0	777942	{10022755,12152006,26602992}	Moderate	\N	CYP2D6*4x≥3 is assigned no function based on moderate evidence. CYP2D6*4x3 was detected in two samples (266029920). CYP2D6*4 duplication has been described in subjects demonstrating decreased metabolism of dextromethorphan or debrisoquine (10022755, 12152006). CYP2D6*4 is defined by a splicing defect resulting in a nonfunctional protein and gene duplication or multiplications would therefore not impact enzyme activity. Therefore, consensus among experts was no function with an activity value of 0 based on moderate evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.001}	f
777945	310	CYP2D6	*5	\N	No function	\N	0.0	777944	{1673290,11266079,31544239}	Definitve	\N	CYP2D6*5 is assigned no function based on definitive evidence. CYP2D6*5 has been studied for more than 20 years and its association with impaired function is well-established (1673290, 31544239). CYP2D6*5 is defined by a deletion of the CYP2D6 gene. CYP2D6*5 was first identified in a homozygous subject demonstrating decreased sparteine metabolism (1673290). An additional study found liver samples of seven subjects heterozygous for CYP2D6*5 demonstrated decreased intrinsic clearance compared to wildtype with a bufuralol substrate (11266079). Therefore, consensus among experts was no function with an activity value of 0 based on definitive evidence.	{"Latino": 0.02915789, "American": 0.01643337, "European": 0.029482473, "Oceanian": 0.03483003, "East Asian": 0.0482394, "Near Eastern": 0.018235605, "Central/South Asian": 0.041759778, "Sub-Saharan African": 0.06219285, "African American/Afro-Caribbean": 0.054194603}	f
777947	310	CYP2D6	*6	\N	No function	\N	0.0	777946	{10022755,7894499,7951238,7868129}	Strong	\N	CYP2D6*6 is assigned no function based on strong evidence. CYP2D6*6 has been described in subjects demonstrating decreased metabolism of various CYP2D6 substrates (10022755, 7894499, 7951238, 7868129). CYP2D6*6 is defined by a single nucleotide deletion resulting in a frameshift and premature stop codon yielding a truncated and nonfunctional protein (7894499). Therefore, consensus among experts was no function with an activity value of 0 based on strong evidence.	{"Latino": 0.0051102643, "American": 0.0025018877, "European": 0.011197059, "Oceanian": 0.0, "East Asian": 0.00015815398, "Near Eastern": 0.00543274, "Central/South Asian": 0.00040183793, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0028887512}	f
779699	258	CYP2D6	*6x2	\N	No function	\N	0.0	777946	{7894499,7951238}	Limited	\N	CYP2D6*6x2 is assigned no function based on limited evidence. CYP2D6*6 is defined by a single nucleotide deletion resulting in a frameshift and premature stop codon yielding a truncated and nonfunctional protein (7894499). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would be clinically similar to phenotypes comprising the nonduplicated allele.	{"Latino": 0.00011035591, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.000067795685}	f
777949	310	CYP2D6	*7	\N	No function	\N	0.0	777948	{7845481,24647041,30366777}	Limited	\N	CYP2D6*7 is assigned no function based on limited evidence. CYP2D6*7 was first described in subjects demonstrating decreased sparteine metabolism (7845481). Two in vitro studies found CYP2D6*7 had nondetectable or markedly decreased enzyme activity compared to wildtype with tamoxifen, bufuralol, dextromethorphan, and primaquine substrates (24647041, 30366777). CYP2D6*7 is defined by an amino substitution near the active site disrupting protein folding and resulting in a nonfunctional enzyme based on computational analysis (7845481). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": 0.0, "American": 0.0030718232, "European": 0.0005116425, "Oceanian": 0.0, "East Asian": 0.000073912495, "Near Eastern": 0.00286119, "Central/South Asian": 0.0073079397, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0002489224}	f
777951	310	CYP2D6	*8	\N	No function	\N	0.0	777950	{8530011}	Limited	\N	CYP2D6*8 is assigned no function based on limited evidence. CYP2D6*8 was first described in a subject demonstrating decreased debrisoquine and sparteine metabolism (8530011). CYP2D6*8 is defined by an amino substitution resulting in a premature stop codon yielding a truncated and nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": 0.0, "American": 0.0010120482, "European": 0.00022450546, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777953	310	CYP2D6	*9	\N	Decreased function	\N	0.25	777952	{1844820,8101460,11266079,24647041,30366777,32599653,33932135,33792048,33967790,30312494}	Moderate	\N	CYP2D6*9 is assigned decreased function based on moderate evidence. CYP2D6*9 was first identified in a liver sample with decreased protein expression and enzyme activity (1844820). Subjects with CYP2D6*9 demonstrated decreased debrisoquine metabolism but greater metabolism compared to subjects with no function alleles based on urine metabolites, indicating there is not a complete loss of enzyme function (8101460). Similarly, liver microsomes of two subjects with CYP2D6*4/*9 and CYP2D6 *1/*9 genotype demonstrated decreased intrinsic clearance compared to wildtype with a bufuralol substrate (11266079). Two in vitro studies found CYP2D6*9 had a modest decrease in intrinsic clearance compared to wildtype (24647041, 30366777). Although one in vitro experiment found CYP2D6*9 had similar activity compared to wildtype with various substrates, the result was not convincing as decreased protein expression in vivo likely contributes to decreased enzyme activity observed in subjects carrying the CYP2D6*9 allele (1844820). Pharmacogenomic clinical studies found the measured activity values for several substrates is reduced (0.34 (PMID 30312494), 0.18 (PMID 33792048), 0.28 (PMID 33792048), 0.22 (PMID 32599653); 0.46 PMID 33932135) and a lower activity value of 0.25 is warranted for most substrates. Therefore, consensus among experts was decreased function with an activity value of 0.25 based on moderate evidence.	{"Latino": 0.015500509, "American": 0.007059503, "European": 0.02754178, "Oceanian": 0.0, "East Asian": 0.0017375742, "Near Eastern": 0.0038028897, "Central/South Asian": 0.0018789063, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0043313783}	f
779703	258	CYP2D6	*9x2	\N	Decreased function	\N	0.5	777952	{1844820,8101460,11266079,24647041,30366777}	Limited	\N	CYP2D6*9x2 is assigned decreased function based on limited evidence. CYP2D6*9 is assigned decreased function based on decreased protein expression and enzyme activity (1844820, 8101460, 11266079, 24647041, 30366777). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would demonstrate greater protein expression and enzyme activity than that of the nonduplicated allele and be clinically similar to phenotypes comprising decreased function alleles.	{"Latino": 0.0, "American": 0.0, "European": 0.000111773355, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777955	310	CYP2D6	*10	\N	Decreased function	\N	0.25	777954	{8764380,11266079,18784265,8287064,24647041,25469868,26310775,26542054,26652007,26937172,26968424,27203132,27251229,27354764,27538917,19364831,30366777,31647186}	Strong	\N	CYP2D6*10 is assigned decreased function based on strong evidence. CYP2D6*10 has consistently been described in subjects demonstrating decreased metabolism of various CYP2D6 substrates, with metabolic ratios greater than those observed in wildtype subjects but less than poor metabolizers (8764380, 8287064, 19364831). In vitro studies using different cell systems similarly found CYP2D6*10 demonstrates decreased intrinsic clearance compared to wildtype with various substrates (27538917, 27354764, 27251229, 27203132, 26968424, 26937172, 26652007, 26542054, 26310775, 25469868, 30366777, 24647041, 11266079, 18784265). As part of the standardization of CYP2D6 genotype to phenotype translation among CPIC and the Dutch Pharmacogenetics Working Group, CYP2D6*10 was reevaluated as the evidence suggests the activity of the CYP2D6*10 is considerably lower compared to other decreased function alleles and the activity value of 0.5 (previously assigned) may overestimate metabolic capacity of patients with this allele (31647186). Therefore, consensus among experts was decreased function with an activity value of 0.25 based on strong evidence.	{"Latino": 0.026291614, "American": 0.014500251, "European": 0.01571283, "Oceanian": 0.05713253, "East Asian": 0.4284454, "Near Eastern": 0.06769364, "Central/South Asian": 0.07559443, "Sub-Saharan African": 0.048626088, "African American/Afro-Caribbean": 0.038160447}	f
779705	259	CYP2D6	*10x2	\N	Decreased function	\N	0.5	777954	{15149890}	Limited	\N	CYP2D6*10x2 is assigned decreased function based on limited evidence. Three subjects with CYP2D6*10/*10x2 genotype demonstrated similar dextromethorphan metabolism compared to CYP2D6*10/*10 subjects and decreased metabolism compared to CYP2D6 *1/*1, CYP2D6 *1/*2, and CYP2D6*1/*10 subjects based on urine metabolites (15149890). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles and clinically similar to phenotypes comprising decreased function alleles.	{"Latino": 0.0016659324, "American": 0.0, "European": 0.0001068211, "Oceanian": 0.0, "East Asian": 0.005851049, "Near Eastern": 0.0022595506, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0011707664}	f
777957	310	CYP2D6	*11	\N	No function	\N	0.0	777956	{8563771,9241659}	Limited	\N	CYP2D6*11 is assigned no function based on limited evidence. CYP2D6*11 is defined by a splicing defect yielding a nonfunctional enzyme and was identified in a subject demonstrating markedly decreased sparteine metabolism (8563771, 9241659). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": 0.0, "American": 0.0, "European": 0.000148423, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.00028528165}	f
777959	310	CYP2D6	*12	\N	No function	\N	0.0	777958	{8655150,9241659,24647041,30366777}	Limited	\N	CYP2D6*12 is assigned no function based on limited evidence. CYP2D6*12 is defined by a nonsense mutation yielding a nonfunctional enzyme and was identified in a subject demonstrating markedly decreased sparteine metabolism (8655150, 9241659). Two in vitro studies found CYP2D6*12 had nondetectable enzyme activity with various substrates (24647041, 30366777). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": 0.0063913045, "European": 0.00013778963, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.002101211, "African American/Afro-Caribbean": 0.00066490064}	f
777961	310	CYP2D6	*13	\N	No function	\N	0.0	777960	{8554938}	Limited	\N	CYP2D6*13 is assigned no function based on limited evidence. CYP2D6*13 was first described in a subject demonstrating markedly decreased dextromethorphan metabolism (8554938). CYP2D6*13 is a CYP2D7-CYP2D6 hybrid allele resulting in a premature stop codon and yielding a truncated nonfunctional enzyme. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": 0.001, "European": 0.00091628334, "Oceanian": null, "East Asian": 0.0012615201, "Near Eastern": null, "Central/South Asian": 0.00074228394, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.000562724}	f
777963	310	CYP2D6	*14	\N	Decreased function	\N	0.5	777962	{18784265,19364831,24647041,30366777}	Limited	\N	CYP2D6*14 is assigned decreased function based on limited evidence. Three subjects with CYP2D6*1/*14, CYP2D6 *10/*14, and CYP2D6*14/*41 genotype, respectively demonstrated decreased dextromethorphan metabolism compared to wildtype based on urine metabolites (19364831). Multiple in vitro studies found CYP2D6*14 had modestly decreased enzyme activity compared to wildtype with various substrates (18784265, 19364831, 24647041, 30366777). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.0, "American": 0.0, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.004713944, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777965	310	CYP2D6	*15	\N	No function	\N	0.0	777964	{8807669}	Limited	\N	CYP2D6*15 is assigned no function based on limited evidence. CYP2D6*15 was first described in a subject demonstrating markedly decreased dextromethorphan and debrisoquine metabolism (8807669). CYP2D6*15 is defined by an amino acid insertion resulting in missense sequence and premature stop codon, yielding a truncated nonfunctional enzyme. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": 0.0, "American": 0.0009130435, "European": 0.0004858789, "Oceanian": 0.0, "East Asian": 0.00009106044, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0023071566, "African American/Afro-Caribbean": 0.0}	f
777967	310	CYP2D6	*17	\N	Decreased function	\N	0.5	777966	{8764380,8971426,9415713,11823760,24647041,30366777}	Moderate	\N	CYP2D6*17 is assigned decreased function based on moderate evidence. CYP2D6*17 has consistently been described in heterozygous and homozygous subjects demonstrating decreased metabolism of various CYP2D6 substrates compared to wildtype subjects based on urine metabolites (8764380, 8971426, 11823760). Multiple in vitro studies found CYP2D6*17 had at least modestly decreased enzyme activity compared to wildtype with various substrates (9415713, 24647041, 30366777). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on moderate evidence.	{"Latino": 0.023261126, "American": 0.0052698795, "European": 0.0039216722, "Oceanian": 0.0010413943, "East Asian": 0.00009343609, "Near Eastern": 0.030970177, "Central/South Asian": 0.0004806022, "Sub-Saharan African": 0.19355686, "African American/Afro-Caribbean": 0.16882424}	f
779712	258	CYP2D6	*17x2	\N	Normal function	\N	1.0	777966	{8764380,8971426,11823760}	Limited	\N	CYP2D6*17x2 is assigned normal function based on limited evidence. CYP2D6*17 is assigned decreased function based on subjects demonstrating decreased enzyme activity with various substrates (8764380, 8971426, 11823760). Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would demonstrate greater enzyme activity than that of the nonduplicated allele and be clinically similar to phenotypes comprising normal function alleles.	{"Latino": 0.008826584, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.002, "African American/Afro-Caribbean": 0.0019977347}	f
777969	310	CYP2D6	*18	\N	No function	\N	0.0	777968	{8946471,10471060,18784265,24647041,30366777}	Moderate	\N	CYP2D6*18 is assigned no function based on moderate evidence. CYP2D6*18 is defined by a 9 base insertion yielding a nonfunctional enzyme and has been described in subjects demonstrating markedly decreased metabolism of sparteine and debrisoquine (8946471, 10471060). Multiple in vitro studies found CYP2D6*18 had decreased enzyme activity compared to wildtype with various substrates (8946471, 18784265, 24647041, 30366777). Therefore, consensus among experts was no function with an activity value of 0 based on moderate evidence.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0013486103, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
777971	309	CYP2D6	*19	\N	No function	\N	0.0	777970	{9241659}	Limited	\N	CYP2D6*19 is assigned no function based on limited evidence. CYP2D6*19 is defined by a four base deletion resulting in a frameshift and yielding a nonfunctional enzyme (9241659). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": null, "European": 0.0003139269, "Oceanian": 0.002224, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777973	310	CYP2D6	*20	\N	No function	\N	0.0	777972	{10471072}	Limited	\N	CYP2D6*20 is assigned no function based on limited evidence. CYP2D6*20 was identified in a liver sample with decreased protein expression and decreased metoprolol metabolism (10471072). CYP2D6*20 is defined by a base insertion resulting in a frameshift and premature stop codon, yielding a truncated and nonfunctional enzyme. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.00011437685, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777975	310	CYP2D6	*21	\N	No function	\N	0.0	777974	{10471060,15618746}	Limited	\N	CYP2D6*21 is assigned no function based on limited evidence. CYP2D6*21 has been described in subjects demonstrating markedly decreased metabolism of debrisoquine and dextromethorphan (10471060, 15618746). CYP2D6*21 is defined by a base insertion resulting in a frameshift and premature stop codon, yielding a truncated and nonfunctional enzyme. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0035356972, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777977	310	CYP2D6	*22	\N	Uncertain function	\N	n/a	777976	{24647041,30366777}	Inadequate	\N	CYP2D6*22 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*22 demonstrated enzyme activity ranging from increased to decreased activity compared to wildtype with various substrates (24647041, 30366777). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": 0.0, "European": 0.003, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777979	310	CYP2D6	*23	\N	Uncertain function	\N	n/a	777978	{24647041,30366777}	Inadequate	\N	CYP2D6*23 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*23 demonstrated modest decreased enzyme activity compared to wildtype with tamoxifen, bufuralol, dextromethorphan, and primaquine substrates (24647041, 30366777). Consensus was not achieved among experts as data were sparse and it was not convincing the magnitude of decreased activity was clinically significant. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777981	310	CYP2D6	*24	\N	Uncertain function	\N	n/a	777980	{18838503,24647041,30366777}	Inadequate	\N	CYP2D6*24 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*24 demonstrated enzyme activity ranging from increased to decreased activity compared to wildtype with various substrates (18838503, 24647041, 30366777). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
777983	310	CYP2D6	*25	\N	Uncertain function	\N	n/a	777982	{24647041,30366777}	Inadequate	\N	CYP2D6*25 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*25 demonstrated decreased enzyme activity compared to wildtype with tamoxifen, bufuralol, dextromethorphan, and primaquine substrates (24647041, 30366777). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
777985	310	CYP2D6	*26	\N	Uncertain function	\N	n/a	777984	{18838503,24647041,30366777}	Inadequate	\N	CYP2D6*26 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*26 demonstrated enzyme activity ranging from increased to decreased activity compared to wildtype with various substrates (18838503, 24647041, 30366777). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
777987	310	CYP2D6	*27	\N	Normal function	\N	1.0	777986	{18784265,18838503,24647041,30366777}	Limited	\N	CYP2D6*27 is assigned normal function based on limited evidence. Multiple in vitro studies found CYP2D6*27 demonstrated similar activity compared to wildtype with various substrates (18784265, 18838503). Although some in vitro studies found CYP2D6*27 demonstrated modestly decreased activity it was not convincing the magnitude of decreased activity was clinically significant (24647041, 30366777). Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence as it was determined the phenotypes containing this allele would be clinically similar to phenotypes comprising normal function alleles.	{"Latino": null, "American": 0.003, "European": 0.0, "Oceanian": null, "East Asian": 0.00056961953, "Near Eastern": 0.007, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0033542388, "African American/Afro-Caribbean": 0.003}	f
5294109	24	CYP2D6	*27x2	\N	Increased function	\N	2.0	777986	{18784265,18838503,24647041,30366777}	Limited	\N	CYP2D6*27x2 was deposited into PharmVar. CYP2D6*27 is assigned normal function based on limited evidence. Multiple in vitro studies found CYP2D6*27 demonstrated similar activity compared to wildtype with various substrates (18784265, 18838503). Although some in vitro studies found CYP2D6*27 demonstrated modestly decreased activity it was not convincing the magnitude of decreased activity was clinically significant (24647041, 30366777). Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence as it was determined the phenotypes containing this allele would be clinically similar to phenotypes comprising normal function alleles. Based on other normal function alleles such as *1, *2, *45, a duplication of a normal function allele is assigned an activity value of 2 and increased function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777989	310	CYP2D6	*28	\N	Uncertain function	\N	n/a	777988	{24647041,30366777}	Inadequate	\N	CYP2D6*28 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*28 demonstrated enzyme activity ranging from nondetectable to similar activity compared to wildtype with various substrates (24647041, 30366777). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": 0.0009319079, "European": 0.004213198, "Oceanian": null, "East Asian": 0.00021425438, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778743	266	G6PD	Acrokorinthos	II/Deficient	II/Deficient	\N	\N	778742	{22293322,32387609,15223006,2393028}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
5294111	24	CYP2D6	*28x2	\N	Uncertain function	\N	n/a	777988	{24647041,30366777}	Inadequate	\N	CYP2D6*28x2 was deposit into PharmVar. CYP2D6*28 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*28 demonstrated enzyme activity ranging from nondetectable to similar activity compared to wildtype with various substrates (24647041, 30366777). Therefore, consensus among experts was uncertain function for CYP2D6*28. CYP2D6*28x2 is also assigned uncertain function as it cannot yet be determined what the phenotype of a duplicated allele with uncertain function would be clinically similar to.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777991	310	CYP2D6	*29	\N	Decreased function	\N	0.5	777990	{11470994,11823760,24647041,30366777}	Moderate	\N	CYP2D6*29 is assigned decreased function based on moderate evidence in homozygous subjects and in vitro studies. Three subjects with CYP2D6*29/*29 genotype demonstrated decreased metabolism compared to CYP2D6*1/*29 subjects with a debrisoquine substrate (11470994). Similarly, four subjects with CYP2D6*29/*29 genotype demonstrated decreased metabolism compared to wildtype with dextromethorphan and metoprolol substrates (11823760). Multiple in vitro studies found CYP2D6*29 had decreased enzyme activity compared to wildtype with various substrates (11470994, 24647041, 30366777). Although one study found subjects with CYP2D6*29/*29 genotype demonstrated similar metabolism compared to wildtype with debrisoquine and codeine substrates (11823760) the experts did not find this result convincing due to the small sample size. Therefore, consensus among experts with decreased function with an activity value of 0.5 based on moderate evidence.	{"Latino": 0.0152478125, "American": 0.0020174354, "European": 0.0010464214, "Oceanian": 0.0, "East Asian": 0.000097904944, "Near Eastern": 0.0077560195, "Central/South Asian": 0.0016065163, "Sub-Saharan African": 0.10825595, "African American/Afro-Caribbean": 0.08743822}	f
779725	258	CYP2D6	*29x2	\N	Normal function	\N	1.0	777990	{11470994,11823760}	Limited	\N	CYP2D6*29x2 is assigned normal function based on limited evidence. CYP2D6*29 is assigned decreased function based on subjects demonstrating decreased enzyme activity with various substrates (11470994, 11823760). Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would demonstrate greater enzyme activity than that of the nonduplicated allele and be clinically similar to phenotypes comprising normal function alleles.	{"Latino": 0.00018922375, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.003, "African American/Afro-Caribbean": 0.0010999363}	f
777993	310	CYP2D6	*30	\N	Uncertain function	\N	n/a	777992	{24647041,30366777}	Inadequate	\N	CYP2D6*30 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*30 demonstrated decreased enzyme activity compared to wildtype with tamoxifen, bufuralol, dextromethorphan, and primaquine substrates (24647041, 30366777). Consensus was not achieved among experts as data were sparse and not consistent among substrates. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777995	310	CYP2D6	*31	\N	No function	\N	0.0	777994	{15726636,20473659,24647041,30366777}	Moderate	\N	CYP2D6*31 is assigned no function based on moderate evidence in heterozygous subjects and in vitro studies. CYP2D6*31 was first identified in a subject with CYP2D6 *4/*31 genotype demonstrating markedly decreased metoprolol metabolism with an AUC more than three times greater than the AUC of wildtype subjects and similar AUC to subjects with two known nonfunctional alleles (15726636). CYP2D6*31 was described in another subject demonstrating decreased dextromethorphan metabolism based on urine metabolites (20473659). Multiple in vitro studies found CYP2D6*31 had nondetectable or markedly decreased enzyme activity compared to wildtype with various substrates (15726636, 24647041, 30366777). CYP2D6*31 is defined by three amino acid substitutions and an analysis of the crystal structure and docking study suggested the Arg440His substitution causes reduced reductase binding resulting in impaired enzyme activity (15726636). Therefore, consensus among experts was no function with an activity value of 0 based on moderate evidence.	{"Latino": 0.007475, "American": 0.006, "European": 0.001476514, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777997	310	CYP2D6	*32	\N	Decreased function	\N	0.25	777996	{24647041,30366777}	Limited	\N	CYP2D6*32 is assigned decreased function with an activity value of 0.25 due to limited evidence. In vitro studies found CYP2D6*32 demonstrated enzyme activity ranging from nondetectable to decreased activity compared to wildtype with various substrates (24647041, 30366777). *32 also contains 2989G>A which is the core SNP of *41 with decreased function and the only other SNP of concern, 3854G>A (E410K) would not be expected to change function as the *27 allele (defined by 3854G>A (E410K)) is normal function. Therefore, consensus among experts was decreased function with limited evidence.	{"Latino": null, "American": 0.0, "European": 0.003, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.002, "Sub-Saharan African": 0.0004385813, "African American/Afro-Caribbean": 0.0}	f
777999	310	CYP2D6	*33	\N	Normal function	\N	1.0	777998	{9241659,24647041,30366777}	Limited	\N	CYP2D6*33 is assigned normal function based on limited evidence. CYP2D6*33 was first described in a subject with CYP2D6 *5/*33 genotype demonstrating similar sparteine metabolism compared to CYP2D6 *1/*5 and CYP2D6 *2/*5 subjects, indicating normal enzyme activity (9241659). In vitro studies similarly found CYP2D6*33 had normal enzyme activity and similar intrinsic clearance compared to wildtype with various substrates (24647041, 30366777). Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence as it was determined the phenotypes containing this allele would be clinically similar to phenotypes comprising normal function alleles.	{"Latino": null, "American": 0.0022216009, "European": 0.009507331, "Oceanian": null, "East Asian": 0.00021425438, "Near Eastern": 0.0, "Central/South Asian": 0.002, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778951	266	G6PD	Alhambra	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778950	{22293322,5413384,4405605,7803800}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778001	310	CYP2D6	*34	\N	Normal function	\N	1.0	778000	{24647041,30366777}	Limited	\N	CYP2D6*34 is assigned normal function based on limited evidence. CYP2D6*34 is defined by a common SNP found in more than 50 different CYP2D6 alleles including CYP2D6*2 which is assigned normal function. An in vitro study found CYP2D6*34 had similar enzyme activity compared to wildtype with dextromethorphan and bufuralol substrates (24647041). Although CYP2D6*34 demonstrated decreased enzyme activity with other substrates (24647041, 30366777), the experts did not find this result convincing that the magnitude of decreased activity was clinically significant. Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence.	{"Latino": 0.00050, "American": 0.0, "European": 0.010744718, "Oceanian": 0.0018, "East Asian": 0.008890849, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.0}	f
778003	310	CYP2D6	*35	\N	Normal function	\N	1.0	778002	{9241659,12766015,21833166,24647041,30366777}	Moderate	\N	CYP2D6*35 is assigned normal function based on moderate evidence in heterozygous subjects. CYP2D6*35 was first identified in a subject with CYP2D6*5/*35 genotype demonstrating similar dextromethorphan metabolism compared to CYP2D6 *1/*5 subjects, indicating normal function of the CYP2D6*35 allele (9241659). Similarly, a subject with CYP2D6*4/*35 genotype demonstrated decreased dextromethorphan metabolism compared to wildtype subjects (21833166). Additionally, a study of 396 subjects found the -1584C>G substitution, which is found in CYP2D6*35 and other normal function alleles such as CYP2D6*2, was not observed in any subject demonstrating poor dextromethorphan metabolism, indicating normal function of the CYP2D6*35 allele (12766015). Although two in vitro studies found CYP2D6*35 had decreased enzyme activity compared to wildtype (24647041, 30366777), experts did not find these results convincing as the expression system may not be reflective of in vivo environment as demonstrated by the numerous subjects carrying the CYP2D6*35 allele with substrate metabolism similar to that of wildtype as described previously. Therefore, consensus among experts was normal function with an activity value of 1 based on moderate evidence.	{"Latino": 0.026583293, "American": 0.011335291, "European": 0.05468046, "Oceanian": 0.003691906, "East Asian": 0.0005036332, "Near Eastern": 0.022185262, "Central/South Asian": 0.008267974, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.008867127}	f
779732	259	CYP2D6	*35x2	\N	Increased function	\N	2.0	778002	{9511177}	Limited	\N	CYP2D6*35x2 is assigned increased function based on limited evidence in heterozygous subjects. CYP2D6*35x2 was described in a subject with CYP2D6*1/*35x2 genotype demonstrating increased enzyme activity with the greatest sparteine metabolism among 195 subjects based on urine metabolites. Additionally, a subject with CYP2D6 *5/*35x2 genotype demonstrated similar sparteine metabolism compared to wildtype subjects indicating increased enzyme activity (9511177). Therefore, consensus among experts was increased function with an activity value of 2 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.00093648373, "American": 0.00020282187, "European": 0.00057484733, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.00009041316}	f
778005	310	CYP2D6	*36	\N	No function	\N	0.0	778004	{7935325,18784265,9918137,16425111,24647041,30366777,16415111}	Moderate	\N	CYP2D6*36 is assigned no function based on moderate evidence in heterozygous subjects and in vitro studies. CYP2D6*36 has been described in subjects with CYP2D6 *1/*36 and CYP2D6 *2/*36 genotype demonstrating decreased metabolism and subjects with CYP2D6 *4/*36 demonstrating poor metabolism with debrisoquine and dextromethorphan substrates (9918137, 16415111). Multiple in vitro studies found CYP2D6*36 had nondetectable or markedly decreased enzyme activity compared to wildtype with various substrates (7935325, 18784265, 24647041, 30366777). Therefore, consensus among experts was no function with an activity value of 0 based on moderate evidence.	{"Latino": 0.002, "American": 0.0, "European": 0.00017518068, "Oceanian": 0.0, "East Asian": 0.011395853, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.004, "African American/Afro-Caribbean": 0.005231697}	f
779734	259	CYP2D6	*36x2	\N	No function	\N	0.0	778004	{12439227}	Limited	\N	CYP2D6*36x2 is assigned no function based on limited evidence in a heterozygous subject. CYP2D6*36x2 has been described in a subject with CYP2D6*21/*36x2 genotype demonstrating poor metabolism with a debrisoquine substrate (12439227). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would be clinically similar to phenotypes comprising the nonduplicated allele.	{"Latino": 0.00050, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.004052432, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.000092301394}	f
778007	310	CYP2D6	*37	\N	Uncertain function	\N	n/a	778006	{24647041,30366777}	Inadequate	\N	CYP2D6*37 is assigned uncertain function based on inadequate evidence. In vitro studies found CYP2D6*37 demonstrated decreased enzyme activity compared to wildtype with tamoxifen, bufuralol, dextromethorphan, and primaquine substrates (24647041, 30366777). Consensus was not achieved among experts as data were sparse and not consistent among substrates. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778009	310	CYP2D6	*38	\N	No function	\N	0.0	778008	{9918137}	Limited	\N	CYP2D6*38 is assigned no function based on limited evidence in a heterozygous subject. CYP2D6*38 was identified in a heterozygous subject with CYP2D6 *4/*38 genotype demonstrating poor metabolism with a debrisoquine substrate (9918137). CYP2D6*38 is defined by a four base pair deletion resulting in a frameshift. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779007	266	G6PD	Amiens	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	779006	{22293322,22139979}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778011	310	CYP2D6	*39	\N	Normal function	\N	1.0	778010	{18784265,11266079,24647041,30366777}	Limited	\N	CYP2D6*39 is assigned normal function based on limited evidence. A liver microsomes sample of a subject with CYP2D6 *10/*39 genotype demonstrated similar enzyme activity compared to wildtype with a bufuralol substrate (11266079). Similarly, in vitro studies found CYP2D6*39 demonstrated similar enzyme activity compared to wildtype with bufuralol, dextromethorphan, and tamoxifen substrates (18784265, 24647041). Although one in vitro study found CYP2D6*39 demonstrated decreased clearance compared to wildtype with a primaquine substrate (30366777) the experts did not find this result convincing as CYP2D6*39 demonstrated similar activity compared to wildtype towards a majority of substrates. Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence.	{"Latino": 0.008, "American": 0.001, "European": 0.014010031, "Oceanian": 0.0063141957, "East Asian": 0.0056442493, "Near Eastern": 0.026844444, "Central/South Asian": 0.0033921853, "Sub-Saharan African": 0.00080620806, "African American/Afro-Caribbean": 0.020066908}	f
778013	310	CYP2D6	*40	\N	No function	\N	0.0	778012	{12152006,12811367,24647041,30366777}	Moderate	\N	CYP2D6*40 is assigned no function based on moderate evidence in heterozygous subjects and in vitro studies. CYP2D6*40 is defined by an 18 base pair insertion. CYP2D6*40 has been described in subjects with CYP2D6 *4/*40, CYP2D6 *6/*40, and CYP2D6 *40/*42 genotype demonstrating poor metabolism with a dextromethorphan substrate (12152006, 12811367). Multiple in vitro studies found CYP2D6*40 had nondetectable enzyme activity compared to wildtype with various substrates (24647041, 30366777). Therefore, consensus among experts was no function with an activity value of 0 based on moderate evidence.	{"Latino": null, "American": 0.0, "European": 0.00069944287, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.013845487, "African American/Afro-Caribbean": 0.004642406}	f
778015	310	CYP2D6	*41	\N	Decreased function	\N	0.25	778014	{11037799,15289790,17001295,17112815,19364831}	Strong	\N	CYP2D6*41 is assigned decreased function based on strong evidence in heterozygous and homozygous subjects and in vitro studies. Subjects carrying CYP2D6*41 have demonstrated decreased enzyme activity compared to wildtype and CYP2D6*2 subjects with various substrates (11037799, 15289790, 17112815, 19364831). In vitro studies found CYP2D6*41 has decreased protein expression compared to wildtype (17001295, 19364831). Therefore, consensus among experts was decreased function with an activity value of 0.25 based on strong evidence.	{"Latino": 0.051015634, "American": 0.027095573, "European": 0.09237511, "Oceanian": 0.032435685, "East Asian": 0.023172446, "Near Eastern": 0.15358411, "Central/South Asian": 0.11927969, "Sub-Saharan African": 0.044932652, "African American/Afro-Caribbean": 0.037086975}	f
779740	258	CYP2D6	*41x2	\N	Decreased function	\N	0.5	778014	{11037799,15289790,17001295,17112815,19364831}	Limited	\N	CYP2D6*41x2 is assigned decreased function based on limited evidence. CYP2D6*41 is assigned decreased function based on decreased protein expression and enzyme activity (11037799, 15289790, 17112815, 19364831, 17001295). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would demonstrate greater protein expression and enzyme activity than that of the nonduplicated allele and be clinically similar to phenotypes comprising decreased function alleles.	{"Latino": 0.00008218229, "American": 0.0, "European": 0.00033715033, "Oceanian": 0.0, "East Asian": 0.00022746579, "Near Eastern": 0.004381261, "Central/South Asian": 0.00049214147, "Sub-Saharan African": 0.00042204256, "African American/Afro-Caribbean": 0.00059508317}	f
779741	258	CYP2D6	*41x3	\N	Decreased function	\N	0.75	778014	{11037799,15289790,17001295,17112815,19364831}	Limited	\N	CYP2D6*41x3 is assigned decreased function based on limited evidence. CYP2D6*41 is assigned decreased function based on decreased protein expression and enzyme activity (11037799, 15289790, 17112815, 19364831, 17001295). Therefore, consensus among experts was decreased function with an activity value of 0.75 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would demonstrate greater protein expression and enzyme activity than that of the nonduplicated allele and be clinically similar to phenotypes comprising decreased function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778017	310	CYP2D6	*42	\N	No function	\N	0.0	778016	{12811367}	Limited	\N	CYP2D6*42 is assigned no function based on limited evidence in a heterozygous subject. CYP2D6*42 has been described in subjects with CYP2D6 *17/*42 genotype demonstrating decreased metabolism and a subject with CYP2D6 *40/*42 genotype demonstrating poor metabolism with a dextromethorphan substrate (12811367). CYP2D6*42 is defined by a base pair insertion resulting in a frameshift yielding a truncated and nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.00077314815, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.0036646896}	f
778019	310	CYP2D6	*43	\N	Uncertain function	\N	n/a	778018	{24647041,30366777}	Inadequate	\N	CYP2D6*43 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*43 demonstrated enzyme activity ranging from nondetectable to similar activity compared to wildtype with various substrates (24647041, 30366777). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": 0.0, "European": 0.00058934913, "Oceanian": 0.002, "East Asian": 0.00038300423, "Near Eastern": 0.003, "Central/South Asian": 0.01, "Sub-Saharan African": 0.0100665875, "African American/Afro-Caribbean": 0.006397251}	f
779744	258	CYP2D6	*43x2	\N	Uncertain function	\N	n/a	778018	{24647041,30366777}	Inadequate	\N	CYP2D6*43x2 is assigned uncertain function due to inadequate evidence. CYP2D6*43 is assigned uncertain function due to inconsistent findings regarding enzyme activity compared to wildtype (24647041, 30366777). Therefore, consensus among experts was uncertain function as it cannot yet be determined what the phenotype of a duplicated allele with uncertain function would be clinically similar to.	{"Latino": null, "American": 0.001, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.0}	f
778021	310	CYP2D6	*44	\N	No function	\N	0.0	778020	{15618746}	Limited	\N	CYP2D6*44 is assigned no function based on limited evidence in a heterozygous subject. CYP2D6*44 was identified in a subject with CYP2D6 *2/*44 genotype demonstrating decreased dextromethorphan metabolism compared to CYP2D6 *1/*2 subjects (15618746). CYP2D6*44 is defined by a splicing defect yielding a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.00041258382, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778023	310	CYP2D6	*45	\N	Normal function	\N	1.0	778022	{15768052,24647041,30366777}	Limited	\N	CYP2D6*45 is assigned normal function based on limited evidence. Subjects with CYP2D6 *5/*45 genotype demonstrated similar dextromethorphan metabolism compared to wildtype subjects (15768052). In vitro studies found CYP2D6*45 demonstrated similar activity compared to wildtype with dextromethorphan and bufuralol substrates (15768052, 24647041). Although one in vitro study found CYP2D6*45 demonstrated decreased clearance compared to wildtype with a primaquine substrate (30366777) the experts did not find this result convincing as CYP2D6*45 demonstrated similar activity compared to wildtype towards a majority of substrates as well as in vivo. Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence.	{"Latino": null, "American": 0.003, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.038135953, "African American/Afro-Caribbean": 0.05011446}	f
779747	258	CYP2D6	*45x2	\N	Increased function	\N	2.0	778022	{15768052,24647041}	Limited	\N	CYP2D6*45x2 is assigned increased function based on limited evidence. CYP2D6*45 is assigned normal function (15768052; 24647041). Therefore, consensus among experts was increased function with an activity value of 2 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would demonstrate greater protein expression and enzyme activity than that of the nonduplicated allele and be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.0, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.0010954796}	f
778025	310	CYP2D6	*46	\N	Normal function	\N	1.0	778024	{15768052,24647041,30366777}	Limited	\N	CYP2D6*46 is assigned normal function based on limited evidence. Subjects carrying the CYP2D6*46 allele demonstrated similar dextromethorphan metabolism and tramadol pharmacokinetics compared to subjects with two functional alleles (15768052). An vitro study found CYP2D6*46 demonstrated similar activity compared to wildtype with dextromethorphan and bufuralol substrates (15768052). Although two in vitro study found CYP2D6*46 demonstrated decreased enzyme activity compared to wildtype with dextromethorphan, bufuralol, and primaquine substrates (24647041, 30366777) the experts did not find this result convincing as CYP2D6*46 demonstrated similar activity compared to wildtype in vivo and in vitro with the same substrates. Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence.	{"Latino": null, "American": 0.001, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.003, "Central/South Asian": 0.0, "Sub-Saharan African": 0.004215873, "African American/Afro-Caribbean": 0.010738235}	f
778027	310	CYP2D6	*47	\N	No function	\N	0.0	778026	{18784265,24647041,30366777}	Limited	\N	CYP2D6*47 is assigned no function based on limited evidence. Multiple in vitro studies found CYP2D6*47 had nondetectable enzyme activity with multiple substrates (18784265, 24647041, 30366777). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0003937946, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778029	310	CYP2D6	*48	\N	Normal function	\N	1.0	778028	{18784265,24647041,30366777}	Limited	\N	CYP2D6*48 is assigned normal function based on limited evidence. Multiple in vitro studies found CYP2D6*48 had similar enzyme activity compared to wildtype with multiple substrates (18784265, 24647041, 30366777). Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00024301164, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778031	310	CYP2D6	*49	\N	Decreased function	\N	0.5	778030	{19158312,18784265,19364831,24647041,30366777}	Limited	\N	CYP2D6*49 is assigned decreased function based on limited evidence. Subjects with CYP2D6 *1/*49 genotypes demonstrated decreased dextromethorphan metabolism compared to wildtype subjects and subjects with CYP2D6 *10/*49 genotype demonstrated decreased dextromethorphan metabolism compared to subjects with CYP2D6 *1/*10 genotype (19364831). Multiple in vitro studies found CYP2D6*49 had decreased enzyme activity compared to wildtype with multiple substrates (18784265, 19158312, 24647041, 30366777). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.009911487, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778033	310	CYP2D6	*50	\N	Decreased function	\N	0.5	778032	{18784265,24647041,30366777}	Limited	\N	CYP2D6*50 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2D6*50 had decreased enzyme activity compared to wildtype with multiple substrates (18784265, 24647041, 30366777). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.00039791822, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": null}	f
778035	310	CYP2D6	*51	\N	No function	\N	0.0	778034	{18784265,24647041,30366777}	Limited	\N	CYP2D6*51 is assigned no function based on limited evidence. Multiple in vitro studies found CYP2D6*51 had nondetectable enzyme activity with multiple substrates (18784265, 24647041, 30366777). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00048685525, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778037	310	CYP2D6	*52	\N	Decreased function	\N	0.25	778036	{24647041,19364831,23897164,30366777}	Limited	\N	CYP2D6*52 is assigned decreased function with an activity value of 0.25 based on limited evidence. Studies found CYP2D6*52 demonstrated decreased enzyme activity compared to wildtype with tamoxifen, bufuralol, dextromethorphan, and primaquine substrates (19364831, 23897164, 24647041, 30366777). This allele has 100C>T (the *10 SNP), 3854G>A (E410K) which we believe does not change function and 4181G>C (*2 SNP) which we also believe is benign. Therefore, consensus among experts was decreased function with limited evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0016893354, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0012988754, "African American/Afro-Caribbean": 0.0}	f
778039	310	CYP2D6	*53	\N	Normal function	\N	1.0	778038	{18784265,24647041,30366777}	Limited	\N	CYP2D6*53 is assigned normal function based on limited evidence. Multiple in vitro studies found CYP2D6*53 had similar enzyme activity compared to wildtype with multiple substrates (18784265, 24647041). Although one in vitro study found CYP2D6*53 demonstrated decreased clearance compared to wildtype with a primaquine substrate (30366777) the experts did not find this result convincing as CYP2D6*53 demonstrated similar activity compared to wildtype towards a majority of substrates. Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence.	{"Latino": 0.005, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00019958949, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": null}	f
778041	310	CYP2D6	*54	\N	Decreased function	\N	0.5	778040	{18784265,24647041,30366777}	Limited	\N	CYP2D6*54 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2D6*54 had decreased enzyme activity compared to wildtype with multiple substrates (18784265, 24647041, 30366777). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0004402299, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778043	310	CYP2D6	*55	\N	Decreased function	\N	0.5	778042	{18784265,24647041,30366777}	Limited	\N	CYP2D6*55 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2D6*55 had decreased enzyme activity compared to wildtype with multiple substrates (18784265, 24647041, 30366777). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00019958949, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778045	310	CYP2D6	*56	\N	No function	\N	0.0	778044	{16679388,17392730}	Limited	\N	CYP2D6*56 is assigned no function based on limited evidence. A subject with CYP2D6 *4/*56 genotype demonstrated poor dextromethorphan metabolism based on urine metabolites on multiple occasions (17392730). CYP2D6*56 was identified in an hepatocyte demonstrating undetectable CYP2D6 protein expression and undetectable enzyme activity with dextromethorphan and bufuralol substrates (16679388). CYP2D6*56 is defined by a premature stop codon yielding a truncated and nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": 0.0, "European": 0.0008093927, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.002, "African American/Afro-Caribbean": 0.0015748427}	f
778049	309	CYP2D6	*58	\N	Unknown function	\N	n/a	778048	{}	No Evidence	\N	CYP2D6*58 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0012297297}	f
778051	310	CYP2D6	*59	\N	Decreased function	\N	0.5	778050	{17001296,26335396}	Moderate	\N	CYP2D6*59 is assigned decreased function based on moderate evidence. CYP2D6*59 has been described in subjects demonstrating decreased sparteine and dextromethorphan metabolism (17001296, 26335396). An in vitro study found CYP2D6*59 exhibited decreased mRNA levels and enzyme activity with a propafenone substrate compared to wildtype (17001296). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on moderate evidence.	{"Latino": null, "American": 0.001, "European": 0.003719603, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778053	309	CYP2D6	*60	\N	No function	\N	0.0	778052	{19364831}	Limited	\N	CYP2D6*60 is assigned no function based on limited evidence. CYP2D6*60 is defined by an early stop codon suggesting a complete functional protein is not formed (19364831). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0014483429, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778055	310	CYP2D6	*61	\N	Uncertain function	\N	n/a	778054	{24647041,30366777}	Inadequate	\N	CYP2D6*61 is assigned uncertain function due to inadequate evidence. In vitro studies have found CYP2D6*61 demonstrated decreased to no detectable enzyme activity compared to wildtype with various substrates (24647041, 30366777) but consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778057	310	CYP2D6	*62	\N	No function	\N	0.0	778056	{17460029,24647041,30366777}	Limited	\N	CYP2D6*62 is assigned no function based on limited evidence. CYP2D6*62 has been described in a subject with reduced enzyme activity with a sparteine substrate (17460029). Multiple in vitro studies found CYP2D6*62 had nondetectable enzyme activity with multiple substrates (17460029, 24647041, 30366777). CYP2D6*62 is defined by a SNP which disrupts heme incorporation resulting in a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778059	310	CYP2D6	*63	\N	Uncertain function	\N	n/a	778058	{24647041,30366777}	Inadequate	\N	CYP2D6*63 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*63 demonstrated decreased enzyme activity compared to wildtype with various substrates (24647041, 30366777). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00028595122, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778061	310	CYP2D6	*64	\N	Uncertain function	\N	n/a	778060	{24647041,30366777}	Inadequate	\N	CYP2D6*64 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*64 demonstrated decreased enzyme activity compared to wildtype with various substrates (24647041, 30366777). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": null}	f
778063	310	CYP2D6	*65	\N	Uncertain function	\N	n/a	778062	{24647041,30366777}	Inadequate	\N	CYP2D6*65 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*65 demonstrated decreased enzyme activity compared to wildtype with various substrates (24647041, 30366777). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.029529046, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": null}	f
778065	310	CYP2D6	*68	\N	No function	\N	0.0	778064	{22111604}	Limited	\N	CYP2D6*68 is assigned no function based on limited evidence. CYP2D6*68 is a CYP2D6-CYP2D7 hybrid gene similar to CYP2D6*4 which results in a nonfunctional protein (22111604). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": 0.001, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.001, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778067	310	CYP2D6	*69	\N	No function	\N	0.0	778066	{18797858}	Limited	\N	CYP2D6*69 is assigned no function based on limited evidence. CYP2D6*69 was identified in a subject demonstrating poor dextromethorphan metabolism (18797858). CYP2D6*69 is a rare allele defined by several SNPs including two which are attributed to the decreased function in other CYP2D6 alleles. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": 0.0, "European": 0.001, "Oceanian": null, "East Asian": 0.010007915, "Near Eastern": 0.0, "Central/South Asian": 0.002, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.0}	f
778069	310	CYP2D6	*70	\N	Uncertain function	\N	n/a	778068	{24647041,30366777}	Inadequate	\N	CYP2D6*70 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*70 demonstrated decreased enzyme activity compared to wildtype with various substrates (24647041, 30366777) but consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": null}	f
778071	310	CYP2D6	*71	\N	Uncertain function	\N	n/a	778070	{24647041,30366777}	Inadequate	\N	CYP2D6*71 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*71 demonstrated decreased enzyme activity compared to wildtype with various substrates (24647041, 30366777). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": 0.042666666, "East Asian": 0.0020697587, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778073	310	CYP2D6	*72	\N	Uncertain function	\N	n/a	778072	{19158312,24647041,30366777}	Inadequate	\N	CYP2D6*72 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*72 demonstrated decreased enzyme activity compared to wildtype with various substrates (19158312, 24647041, 30366777). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778075	309	CYP2D6	*73	\N	Unknown function	\N	n/a	778074	{}	No Evidence	\N	CYP2D6*73 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0022734273, "African American/Afro-Caribbean": 0.0}	f
778077	309	CYP2D6	*74	\N	Unknown function	\N	n/a	778076	{}	No Evidence	\N	CYP2D6*74 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0013710798, "African American/Afro-Caribbean": 0.0}	f
778079	310	CYP2D6	*75	\N	Uncertain function	\N	n/a	778078	{24647041,26652007,30366777}	Inadequate	\N	CYP2D6*75 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*75 demonstrated decreased enzyme activity compared to wildtype with various substrates (26652007, 24647041, 30366777). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00029222333, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778701	266	G6PD	Amsterdam	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778700	{22293322,12130518}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778957	266	G6PD	Anadia	II/Deficient	II/Deficient	\N	\N	778956	{22293322,1945893,18056001}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778081	310	CYP2D6	*81	\N	No function	\N	0.0	778080	{23799451}	Limited	\N	CYP2D6*81 is assigned no function based on limited evidence. CYP2D6*81 was identified in a subject demonstrating impaired enzyme activity based on experiencing adverse effects with venlafaxine and subsequently elevated nortriptyline levels (23799451). CYP2D6*81 is defined by an early stop codon yielding a truncated and nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778083	309	CYP2D6	*82	\N	Unknown function	\N	n/a	778082	{}	No Evidence	\N	CYP2D6*82 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": 0.021, "American": 0.009419355, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.00089590444, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778085	309	CYP2D6	*83	\N	Uncertain function	\N	n/a	778084	{22111604}	Inadequate	\N	CYP2D6*83 is assigned uncertain function due to inadequate evidence. CYP2D6*83 is a rare hybrid allele associated with a CYP2D6*1 gene duplication (22111604). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778087	310	CYP2D6	*84	\N	Uncertain function	\N	n/a	778086	{28290770}	Inadequate	\N	CYP2D6*84 is assigned uncertain function due to inadequate evidence. A subject with CYP2D6 *12/*84 demonstrated decreased dextromethorphan metabolism based on urine metabolites (28290770). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.003}	f
778089	309	CYP2D6	*85	\N	Unknown function	\N	n/a	778088	{}	No Evidence	\N	CYP2D6*85 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778091	309	CYP2D6	*86	\N	Unknown function	\N	n/a	778090	{}	No Evidence	\N	CYP2D6*86 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0001941358, "Near Eastern": null, "Central/South Asian": 0.021387372, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778093	310	CYP2D6	*87	\N	Uncertain function	\N	n/a	778092	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*87 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*87 demonstrated enzyme activity ranging from increased to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778095	310	CYP2D6	*88	\N	Uncertain function	\N	n/a	778094	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*88 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*88 demonstrated enzyme activity ranging from similar to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778097	310	CYP2D6	*89	\N	Uncertain function	\N	n/a	778096	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*89 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*89 demonstrated enzyme activity ranging from increased to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778099	310	CYP2D6	*90	\N	Uncertain function	\N	n/a	778098	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*90 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*90 demonstrated enzyme activity ranging from increased to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778747	266	G6PD	Ananindeua	II/Deficient	II/Deficient	\N	\N	778746	{22293322,32387609,12367584}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778101	310	CYP2D6	*91	\N	Decreased function	\N	0.25	778100	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Limited	\N	CYP2D6*91 is assigned decreased function with an activity value of 0.25 due to limited evidence. *91 contains 2989G>A splicing SNP found in *41 (decreased function). In vitro studies found CYP2D6*91 demonstrated enzyme activity ranging from similar to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917): however, in the cases of normal activity, the effect of the 2989G>A splice SNP found in *41 was not captured in the in vitro system utilized which may explain activity comparable to *1 or *2. Therefore, consensus among experts was decreased function based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778103	310	CYP2D6	*92	\N	No function	\N	0.0	778102	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Limited	\N	CYP2D6*92 is assigned no function based on limited evidence. Multiple in vitro studies found CYP2D6*92 had nondetectable enzyme with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). CYP2D6*92 is defined by a deletion resulting in a frameshift and early stop codon and yielding a truncated nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778105	310	CYP2D6	*93	\N	Uncertain function	\N	n/a	778104	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*93 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*93 demonstrated decreased enzyme activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778107	310	CYP2D6	*94	\N	Uncertain function	\N	n/a	778106	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*94 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*94 demonstrated enzyme activity ranging from similar to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778109	310	CYP2D6	*95	\N	Uncertain function	\N	n/a	778108	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*95 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*95 demonstrated enzyme activity ranging from similar to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778111	310	CYP2D6	*96	\N	No function	\N	0.0	778110	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Limited	\N	CYP2D6*96 is assigned no function based on limited evidence. Multiple in vitro studies found CYP2D6*96 had nondetectable enzyme with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). CYP2D6*96 is defined by an early stop codon yielding a truncated nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778113	310	CYP2D6	*97	\N	Uncertain function	\N	n/a	778112	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*97 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*97 demonstrated enzyme activity ranging from similar to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778115	310	CYP2D6	*98	\N	Uncertain function	\N	n/a	778114	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*98 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*98 demonstrated enzyme activity ranging from similar to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778117	310	CYP2D6	*99	\N	No function	\N	0.0	778116	{29327975}	Limited	\N	CYP2D6*99 is assigned no function based on limited evidence. CYP2D6*99 has been described in a subject with CYP2D6*5/*99 genotype demonstrating markedly decreased metabolism compared to wildtype with dextromethorphan and venlafaxine substrates (29327975). CYP2D6*99 is defined by the same SNPs as CYP2D6*10 in addition to a SNP resulting in an amino acid substitution which disrupts enzyme activity yielding a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.002, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778119	310	CYP2D6	*100	\N	No function	\N	0.0	778118	{23394389}	Limited	\N	CYP2D6*100 is assigned no function based on limited evidence. CYP2D6*100 has been described in a subject with CYP2D6*5/*100 genotype demonstrating markedly decreased dextromethorphan metabolism compared to wildtype (23394389). CYP2D6*100 is defined by the same SNPs as CYP2D6*10 in addition to a base pair deletion resulting in a frameshift yielding a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.003, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
778121	310	CYP2D6	*101	\N	No function	\N	0.0	778120	{23394389}	Limited	\N	CYP2D6*101 is assigned no function based on limited evidence. CYP2D6*101 has been described in a subject with CYP2D6*2/*101 genotype demonstrating markedly decreased dextromethorphan metabolism compared to wildtype (23394389). CYP2D6*101 is defined by the same SNPs as CYP2D6*10 in addition to a 19 base pair deletion resulting in a frameshift yielding a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.003, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
778125	309	CYP2D6	*103	\N	Unknown function	\N	n/a	778124	{}	No Evidence	\N	CYP2D6*103 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0033, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778127	309	CYP2D6	*104	\N	Unknown function	\N	n/a	778126	{}	No Evidence	\N	CYP2D6*104 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0033, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778129	309	CYP2D6	*105	\N	Unknown function	\N	n/a	778128	{}	No Evidence	\N	CYP2D6*105 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.006, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778131	310	CYP2D6	*106	\N	Uncertain function	\N	n/a	778130	{26937359,23897164}	Inadequate	\N	CYP2D6*106 is assigned uncertain function due to inadequate evidence. CYP2D6*106 is defined by a single SNP which in silico studies predict to be a benign amino acid change (26937359). An in vitro study found CYP2D6*106 demonstrated decreased enzyme activity compared to wildtype with bufuralol and dextromethorphan substrates (23897164). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": 0.001, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.015, "African American/Afro-Caribbean": 0.0}	f
778133	309	CYP2D6	*107	\N	Unknown function	\N	n/a	778132	{}	No Evidence	\N	CYP2D6*107 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778135	309	CYP2D6	*108	\N	Unknown function	\N	n/a	778134	{}	No Evidence	\N	CYP2D6*108 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.003, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778137	309	CYP2D6	*109	\N	Decreased function	\N	0.25	778136	{11470994,1844820,8101460,11266079,24647041,30366777}	Limited	\N	CYP2D6*109 is assigned decreased function based on limited evidence. *109 has the 2616delAAG (also present in *9 with decreased function-PMID 1844820; 8101460; 11266079; 24647041; 30366777) and 3184G>A (V338M) which is a core SNP of *29. One study compared activity of V338M vs that of V136I (both present in *29) and found that both decrease activity in vitro (PMID 11470994). Because both variants have been shown to have decreased function in vitro, consensus of the experts was decreased function with limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778139	309	CYP2D6	*110	\N	Uncertain function	\N	n/a	778138	{31368850}	Inadequate	\N	CYP2D6*110 is assigned uncertain function. CYP2D6*110 is defined by a SNP which in silico studies predict to be a deleterious amino acid change (31368850). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779003	266	G6PD	Andalus	II/Deficient	II/Deficient	\N	\N	779002	{22293322,12497642,32425388,16088936,2393028}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.00007233273, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778141	309	CYP2D6	*111	\N	Uncertain function	\N	n/a	778140	{31368850}	Inadequate	\N	CYP2D6*111 is assigned uncertain function. CYP2D6*111 is defined by a SNP which in silico studies predict to be a deleterious amino acid change (31368850). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": 0.0, "European": 0.004, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.008, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778143	309	CYP2D6	*112	\N	Uncertain function	\N	n/a	778142	{31368850}	Inadequate	\N	CYP2D6*112 is assigned uncertain function. CYP2D6*112 is defined by a SNP which in silico studies predict to be a benign amino acid change (31368850). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.002, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778147	310	CYP2D6	*114	\N	No function	\N	0.0	778146	{10064570,18784265,24647041}	Limited	\N	CYP2D6*114 is assigned no function based on limited evidence. CYP2D6*114 has been described in a subject with CYP2D6*5/*114 genotype demonstrating poor debrisoquine metabolism (10064570). Multiple in vitro studies found CYP2D6*114 had nondetectable enzyme activity with various substrates (18784265, 24647041). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0007862866, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778149	309	CYP2D6	*115	\N	Unknown function	\N	n/a	778148	{}	No Evidence	\N	CYP2D6*115 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778151	309	CYP2D6	*116	\N	Unknown function	\N	n/a	778150	{}	No Evidence	\N	CYP2D6*116 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778153	309	CYP2D6	*117	\N	Unknown function	\N	n/a	778152	{}	No Evidence	\N	CYP2D6*117 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.004, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778155	309	CYP2D6	*118	\N	Unknown function	\N	n/a	778154	{}	No Evidence	\N	CYP2D6*118 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778157	309	CYP2D6	*119	\N	Decreased function	\N	0.25	778156	{11037799,15289790,17001295,17112815,19364831}	Limited	\N	CYP2D6*119 is assigned decreased function wiht an activity value of 0.25 due to limited evidence describing function of this allele. *119 contains the splice SNP 2989G>A that is also found in *41 (decreased function; 11037799; 15289790; 17001295; 17112815; 19364831). Therefore, consensus among experts was decreased function due to limited evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.001, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778159	310	CYP2D6	*120	\N	No function	\N	0.0	778158	{}	Limited	\N	CYP2D6*120 is assigned no function based on limited evidence. CYP2D6*120 is defined by an early stop codon yielding a truncated and nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778161	309	CYP2D6	*121	\N	Unknown function	\N	n/a	778160	{}	No Evidence	\N	CYP2D6*121 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.003}	f
778163	309	CYP2D6	*122	\N	Unknown function	\N	n/a	778162	{}	No Evidence	\N	CYP2D6*122 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.003}	f
778165	309	CYP2D6	*123	\N	Uncertain function	\N	n/a	778164	{31368850}	Inadequate	\N	CYP2D6*123 is assigned uncertain function due to inadequate data describing function of this allele. *123 has the same core SNPs as *41 plus 2870T>C (L302P); this is the only allele with the latter and there does not seem to be additional functional information. Therefore, consensus among experts was uncertain function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778167	310	CYP2D6	*124	\N	No function	\N	0.0	778166	{}	Limited	\N	CYP2D6*124 is assigned no function based on limited evidence. CYP2D6*124 is defined by a deletion resulting in a frameshift and yielding a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778169	309	CYP2D6	*125	\N	Unknown function	\N	n/a	778168	{}	No Evidence	\N	CYP2D6*125 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.003, "African American/Afro-Caribbean": 0.003}	f
778171	309	CYP2D6	*126	\N	Unknown function	\N	n/a	778170	{}	No Evidence	\N	CYP2D6*126 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778173	309	CYP2D6	*127	\N	Unknown function	\N	n/a	778172	{}	No Evidence	\N	CYP2D6*127 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778175	309	CYP2D6	*128	\N	Uncertain function	\N	n/a	778174	{32759992}	Inadequate	\N	CYP2D6*128 is assigned uncertain function due to inadequate literature describing function of this allele. One in vitro study demonstrated substantially decreased intrinsic clearance CLint (Vmax/Km) of 3.3% compared to *1 for tamoxifen N-desmethylation (32759992); no activity was detectable for dextromethorphan O-demethylation. Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778177	310	CYP2D6	*129	\N	No function	\N	0.0	778176	{32759992}	Limited	\N	CYP2D6*129 is assigned no function based on limited evidence. CYP2D6*129 is defined by an premature stop codon predicted to yield truncated protein and thus be nonfunctional. One in vitro study demonstrated substantially decreased intrinsic clearance CLint (Vmax/Km) of 3.2% compared to *1 for tamoxifen N-desmethylation; no activity was detectable for dextromethorphan O-demethylation (32759992). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778179	309	CYP2D6	*130	\N	Uncertain function	\N	n/a	778178	{32759992}	Inadequate	\N	CYP2D6*130 is assigned uncertain function due to inadequate literature describing function of this allele. One in vitro study demonstrated substantially decreased intrinsic clearance CLint (Vmax/Km) of 3.2% compared to *1 for tamoxifen N-desmethylation; no activity was detectable for dextromethorphan O-demethylation (32759992). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778181	309	CYP2D6	*131	\N	Uncertain function	\N	n/a	778180	{32759992}	Inadequate	\N	CYP2D6*131 is assigned uncertain function due to inadequate literature describing function of this allele. One in vitro study demonstrated substantially decreased intrinsic clearance CLint (Vmax/Km) of 3.8% and 2.3% compared to *1 for tamoxifen N-desmethylation and dextromethorphan O-demethylation, respectively. Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778183	309	CYP2D6	*132	\N	Decreased function	\N	0.25	778182	{32759992}	Limited	\N	CYP2D6*132 is assigned decreased function with an activity value of 0.25 due to limited literature describing function of this allele. One in vitro study demonstrated substantially decreased intrinsic clearance CLint (Vmax/Km) of 3.8% and 0.5% compared to *1 for tamoxifen N-desmethylation and dextromethorphan O-demethylation, respectively (32759992). The allele contains 100C>T and 4181G>C (present in *10) and 2819A>G. There are no data describing the consequence of 2819A>G; however, based on the function of *10 and the in vivo study, consensus among experts was decreased function due to limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778185	309	CYP2D6	*133	\N	Uncertain function	\N	n/a	778184	{32759992}	Inadequate	\N	CYP2D6*133 is assigned uncertain function due to inadequate literature describing function of this allele. One in vitro study demonstrated substabtially decreased intrinsic clearance CLint (Vmax/Km) of 2.5% and 4.5% compared to *1 for tamoxifen N-desmethylation and dextromethorphan O-demethylation, respectively. Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778187	309	CYP2D6	*134	\N	Uncertain function	\N	n/a	778186	{32759992}	Inadequate	\N	CYP2D6*134 is assigned uncertain function due to inadequate literature describing function of this allele. One in vitro study demonstrated intrinsic clearance CLint (Vmax/Km) of 104.5% and 81.2 % compared to *1 for tamoxifen N-desmethylation and dextromethorphan O-demethylation, respectively, suggesting normal activity (32759992). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778189	309	CYP2D6	*135	\N	Uncertain function	\N	n/a	778188	{32759992}	Inadequate	\N	CYP2D6*135 is assigned uncertain function due to inadequate literature describing function of this allele. One in vitro study demonstrated decreased intrinsic clearance CLint (Vmax/Km) of 32.3% and 45.8% compared to *1 for tamoxifen N-desmethylation and dextromethorphan O-demethylation, respectively (32759992). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2677054	93	CYP2D6	*171	\N	\N	\N	\N	2677053	\N	\N	\N	\N	\N	f
778191	309	CYP2D6	*136	\N	Uncertain function	\N	n/a	778190	{32759992}	Inadequate	\N	CYP2D6*136 is assigned uncertain function due to inadequate literature describing function of this allele. One in vitro study demonstrated substantially decreased intrinsic clearance CLint (Vmax/Km) of 8.9% and 12.7% compared to *1 for tamoxifen N-desmethylation and dextromethorphan O-demethylation, respectively (32759992). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778193	309	CYP2D6	*137	\N	Uncertain function	\N	n/a	778192	{32759992}	Inadequate	\N	CYP2D6*137 is assigned uncertain function due to inadequate literature describing function of this allele. One in vitro study demonstrated decreased intrinsic clearance CLint (Vmax/Km) of 50.1% and 78.2% compared to *1 for tamoxifen N-desmethylation and dextromethorphan O-demethylation, respectively (32759992). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778195	310	CYP2D6	*138	\N	Uncertain function	\N	n/a	778194	{31536170}	Inadequate	\N	CYP2D6*138 is assigned uncertain function due to inadequate evidence. CYP2D6*138 is defined by a splice defect known to decrease activity and an amino acid substitution which an in vitro study found to increase activity compared to *1 when expressed on its own (31536170). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778197	309	CYP2D6	*139	\N	Unknown function	\N	n/a	778196	{}	No Evidence	\N	CYP2D6*139 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.001, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.0}	f
778199	216	CYP2D6	*140	\N	Unknown function	\N	n/a	778198	{}	No Evidence	\N	CYP2D6*140 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778201	216	CYP2D6	*141	\N	Uncertain function	\N	n/a	778200	{}	Inadequate	\N	CYP2D6*141 is assigned uncertain function due to the presence of variants found in other alleles known to cause decreased (*17) or no function (*36); there is no literature describing the combined effect of the variants found in this allele. Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778203	216	CYP2D6	*142	\N	Uncertain function	\N	n/a	778202	{33998274}	Inadequate	\N	CYP2D6*142 is assigned uncertain function based on inadequate evidence. A subject sequenced as CYP2D6*10/*142 had a risperidone/9-hydroxy-risperidone ratio comparable to subjects with an AS of 0.25, 0.5 or 0.75 (33998274). CYP2D6*142 is a rare allele defined by several SNPs including 100C>T which causes decreased function in other CYP2D6 alleles (e.g. *10). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778205	216	CYP2D6	*143	\N	No function	\N	0.0	778204	{33998274}	Limited	\N	CYP2D6*143 is assigned no function based on limited evidence. CYP2D6*143 is defined by a premature stop codon predicted to yield truncated protein and thus be nonfunctional. A subject sequenced as CYP2D6*143/*144 had a risperidone/9-hydroxy-risperidone ratio that was higher (indicating lower activity) compared to that found in subjects with two no function alleles(33998274). Therefore, consensus among experts was no function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778207	216	CYP2D6	*144	\N	No function	\N	0.0	778206	{33998274}	Limited	\N	CYP2D6*144 is assigned no function based on limited evidence. CYP2D6*144 is defined by a splice accepter variant predicting abberant splicing. A subject sequenced as CYP2D6*143/*144 had a risperidone/9-hydroxy-risperidone ratio that was higher (indicating lower activity) compared to that found in subjects with two no function alleles. Two subjects genotyped as *1/*144 and *2/*144 had ratios comparable to that of subjects with an AS of 1 (33998274). Therefore, consensus among experts was no function.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.001, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778209	216	CYP2D6	*145	\N	Uncertain function	\N	n/a	778208	{24647041,30366777}	Inadequate	\N	CYP2D6*145 is assigned uncertain function due to inadequate evidence. CYP2D6*145 is defined by the insertion of three amino acids which also define CYP2D6*30; *145 lacks two others also present in *30. In vitro studies demonstrated decreased enzyme activity for *30 compared to *1 with tamoxifen, bufuralol, dextromethorphan, and primaquine substrates (24647041, 30366777). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1103378	216	CYP2D6	*146	\N	Uncertain function	\N	n/a	1103377	{}	Inadequate	\N	CYP2D6*146 is assigned uncertain function. CYP2D6*146 is defined by three SNPs all of which have been found in other star alleles; none of these SNPs have been implicated to cause no function; two are the defining SNPs of the normal function *2 allele and one is the defining SNP of uncertain function *43 allele. Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779037	266	G6PD	Arakawa	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	779036	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
2955640	151	CYP2D6	*146x2	\N	Uncertain function	\N	n/a	1103377	{}	Inadequate	\N	CYP2D6*146x2 is assigned uncertain function. CYP2D6*146 is defined by three SNPs all of which have been found in other star alleles; none of these SNPs have been implicated to cause no function; two are the defining SNPs of the normal function *2 allele and one is the defining SNP of uncertain function *43 allele. Therefore, consensus among experts for *146 and *146x2 was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00052, "African American/Afro-Caribbean": null}	f
1103380	216	CYP2D6	*147	\N	Uncertain function	\N	n/a	1103379	{}	Inadequate	\N	CYP2D6*147 is assigned uncertain function due to inadequate evidence. CYP2D6*147 is defined by the insertion of three amino acids found in CYP2D6*30 (for which the function is uncertain) and the 100C>T variant which has been shown to cause severely decreased function of e.g. *10. Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2091243	214	CYP2D6	*155	\N	Unknown function	\N	n/a	2091242	{}	No Evidence	\N	CYP2D6*155 is assigned unknown function due to no literature describing function of this allele. CYP2D6*155 is defined by the five SNPs defining the decreased function *29 allele and one additional SNP that is not found on any other star allele.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00104, "African American/Afro-Caribbean": null}	f
2091245	214	CYP2D6	*156	\N	No function	\N	0.0	2091244	{}	Limited	\N	CYP2D6*156 is assigned no function based on limited evidence. CYP2D6*156 is defined by the five SNPs defining the decreased function *29 allele and one additional SNP, 154C>T which causes a premature stop codon (Q52X) that likely renders the allele nonfunctional. Therefore, consensus among experts was no function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00104, "African American/Afro-Caribbean": null}	f
2091247	214	CYP2D6	*157	\N	Unknown function	\N	n/a	2091246	{}	No Evidence	\N	CYP2D6*157 is assigned unknown function due to no literature describing function of this allele. CYP2D6*157 is defined by the five SNPs defining the decreased function *29 allele and one additional SNP that is not found on any other star allele.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00052, "African American/Afro-Caribbean": null}	f
2091249	214	CYP2D6	*158	\N	Unknown function	\N	n/a	2091248	{}	No Evidence	\N	CYP2D6*158 is assigned unknown function due to no literature describing function of this allele. CYP2D6*158 is defined by the three SNPs defining the decreased function *41 allele, and one additional SNP that is not found on any other star allele.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00208, "African American/Afro-Caribbean": null}	f
2091251	214	CYP2D6	*159	\N	Unknown function	\N	n/a	2091250	{}	No Evidence	\N	CYP2D6*159 is assigned unknown function due to no literature describing function of this allele. CYP2D6*159 is defined by the two SNPs defining the normal function *2 allele and one additional SNP that is not found on any other star allele.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00052, "African American/Afro-Caribbean": null}	f
2091253	214	CYP2D6	*160	\N	Unknown function	\N	n/a	2091252	{}	No Evidence	\N	CYP2D6*160 is assigned unknown function due to no literature describing function of this allele. CYP2D6*160 is defined by the two SNPs defining the normal function *2 allele and two additional SNPs that are also found on *82 which is cassified as unknown function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00052, "African American/Afro-Caribbean": null}	f
2091255	214	CYP2D6	*161	\N	No function	\N	0.0	2091254	{}	limited	\N	CYP2D6*161 is assigned no function based on limited evidence. CYP2D6*161 is defined by the two SNPs defining the normal function *2 allele and two SNP that are only found on this star allele of which one, 2591_2592insT causes a premature stop codon (E273X) that likely renders the allele nonfunctional.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00208, "African American/Afro-Caribbean": null}	f
2091257	214	CYP2D6	*162	\N	Uncertain function	\N	n/a	2091256	{}	Inadequate	\N	CYP2D6*162 is assigned uncertain function based on inadequate evidence. CYP2D6*162 is defined by the two SNPs defining the normal function *2 allele and the SNP defining the normal function *27 allele.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00052, "African American/Afro-Caribbean": null}	f
2091259	214	CYP2D6	*163	\N	Unknown function	\N	n/a	2091258	{}	No Evidence	\N	CYP2D6*163 is assigned unknown function due to no literature describing function of this allele. CYP2D6*163 is defined by the two SNPs defining the normal function *2 allele and a SNP that is not found on any other star allele.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00052, "African American/Afro-Caribbean": null}	f
778709	266	G6PD	Asahi	III/Deficient	III/Deficient	\N	\N	778708	{22293322,32387609,11852882}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0041368, "European": 0.00016199434, "East Asian": 0.0, "Central/South Asian": 0.00036695323, "African American/Afro-Caribbean": 0.11640658}	f
778827	266	G6PD	Asahikawa	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778826	{22293322,9192788,6500558}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778687	266	G6PD	Aures	III/Deficient	III/Deficient	\N	\N	778686	{22293322,33413378,22963789,23006493,8860007,7959686,18226470,8490627}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.00014428973, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778837	266	G6PD	Aveiro	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778836	{22293322,10666231}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778859	266	G6PD	Bajo Maumere	III/Deficient	III/Deficient	\N	\N	778858	{22293322,16927025}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778845	266	G6PD	Bangkok	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778844	{22293322,21302115}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779009	266	G6PD	Bangkok Noi	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	779008	{22293322,21302115}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778739	266	G6PD	Bao Loc	II/Deficient	II/Deficient	\N	\N	778738	{22293322,17726510}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778953	266	G6PD	Bari	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778952	{22293322,8808605,7959695}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778767	266	G6PD	Belem	II/Deficient	II/Deficient	\N	\N	778766	{22293322,12367584}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778939	266	G6PD	Beverly Hills, Genova, Iwate, Niigata, Yamaguchi	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778938	{22293322,7440223,2307454,9192788}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779039	266	G6PD	Brighton	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	779038	{22293322}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779035	266	G6PD	Buenos Aires	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	779034	{22293322,18086567}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778763	266	G6PD	Cairo	II/Deficient	II/Deficient	\N	\N	778762	{22293322,1945893,22770933}	Moderate	\N	WHO Class II assigned based on evidence supporting decreased enzyme activity (less than A-). Additionally, analysis of the clinical presentation of the 11 children with G6PD Cairo revealed that all suffered hemolytic crises due to fava bean consumption and reported varying levels of jaundice at birth. The resulting in a WHO class II assignment (22770933).	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778923	266	G6PD	Calvo Mackenna	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778922	{22293322,7655862}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779033	266	G6PD	Campinas	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	779032	{22293322,8477268}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779013	266	G6PD	Canton, Taiwan-Hakka, Gifu-like, Agrigento-like	II/Deficient	II/Deficient	\N	\N	779012	{22293322,2263506,1953767,22963789}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.00003574748, "European": 0.0, "East Asian": 0.010610976, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778995	266	G6PD	Cassano	II/Deficient	II/Deficient	\N	\N	778994	{22293322,8447319,10782016}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778895	266	G6PD	Chatham	II/Deficient	II/Deficient	\N	\N	778894	{22293322,7959686,3393536}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.00006178815, "East Asian": 0.000072196955, "Central/South Asian": 0.0013113035, "African American/Afro-Caribbean": 0.0}	f
778795	266	G6PD	Chikugo	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778794	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778855	266	G6PD	Chinese-1	II/Deficient	II/Deficient	\N	\N	778854	{22293322,1459579}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778901	266	G6PD	Chinese-5	III/Deficient	III/Deficient	\N	\N	778900	{22293322,8471773}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0016838418, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.000052534804}	f
778817	266	G6PD	Cincinnati	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778816	{22293322,20949590}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778841	266	G6PD	Cleveland Corum	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778840	{22293322,7803800,7577654}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778961	266	G6PD	Clinic	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778960	{22293322,7825590}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778805	266	G6PD	Coimbra Shunde	II/Deficient	II/Deficient	\N	\N	778804	{22293322,1551674,8471773}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.000010230493, "East Asian": 0.00007214487, "Central/South Asian": 0.00020966558, "African American/Afro-Caribbean": 0.0}	f
779011	266	G6PD	Cosenza	II/Deficient	II/Deficient	\N	\N	779010	{22293322,7959686,8447319}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.000010319598, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778699	266	G6PD	Costanzo	II/Deficient	II/Deficient	\N	\N	778698	{22293322}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778959	266	G6PD	Covao do Lobo	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778958	{22293322,16079115}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778741	266	G6PD	Crispim	II/Deficient	II/Deficient	\N	\N	778740	{22293322,12367584}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778811	266	G6PD	Dagua	Uncertain	Uncertain function	\N	\N	778810	{22293322}	Inadequate	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.000104821804, "African American/Afro-Caribbean": 0.0}	f
778831	266	G6PD	Durham	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778830	{22293322,9290617}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778889	266	G6PD	Farroupilha	II-III/Deficient	II/Deficient	\N	\N	778888	{22293322,10627140}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779005	266	G6PD	Figuera da Foz	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	779004	{22293322,18056001}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779019	266	G6PD	Flores	II/Deficient	II/Deficient	\N	\N	779018	{22293322,15065213}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779031	266	G6PD	Fukaya	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	779030	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778897	266	G6PD	Fushan	II/Deficient	II/Deficient	\N	\N	778896	{22293322,7803800}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778675	266	G6PD	Gaohe	III/Deficient	III/Deficient	\N	\N	778674	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0019558913, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778979	266	G6PD	Georgia	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778978	{22293322,7803800}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778681	266	G6PD	Gidra	Uncertain	Uncertain function	\N	\N	778680	{22293322,9410474}	Inadequate	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778775	266	G6PD	Gond	Uncertain	Uncertain function	\N	\N	778774	{22293322,20713184}	Inadequate	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.000035645542, "European": 0.000045109253, "East Asian": 0.0, "Central/South Asian": 0.008700666, "African American/Afro-Caribbean": 0.0}	f
778937	266	G6PD	Guadalajara	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778936	{22293322,32387609,7129446}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778727	266	G6PD	Guangzhou	III/Deficient	III/Deficient	\N	\N	778726	{22293322,16607506}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778853	266	G6PD	Haikou	II/Deficient	II/Deficient	\N	\N	778852	{22293322,11295127}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778735	266	G6PD	Hammersmith	III/Deficient	III/Deficient	\N	\N	778734	{22293322,12064901,10192449}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778819	266	G6PD	Harilaou	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778818	{22293322,2222408}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.00003647638, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778999	266	G6PD	Harima	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778998	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778941	266	G6PD	Hartford	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778940	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778711	266	G6PD	Hechi	II/Deficient	II/Deficient	\N	\N	778710	{22293322,17018380}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778997	266	G6PD	Hermoupolis	II/Deficient	II/Deficient	\N	\N	778996	{22293322,10782016}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778677	266	G6PD	Honiara	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778676	{22293322,7726184}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778907	266	G6PD	Ierapetra	II/Deficient	II/Deficient	\N	\N	778906	{22293322,1611091}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778771	266	G6PD	Ilesha	III/Deficient	III/Deficient	\N	\N	778770	{22293322,7959686,848857}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0011765126, "European": 0.000009013232, "East Asian": 0.0, "Central/South Asian": 0.00041928721, "African American/Afro-Caribbean": 0.00052700925}	f
778891	266	G6PD	Insuli	IV/Normal	IV/Normal	\N	\N	778890	{22293322,12737940}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778935	266	G6PD	Iowa, Walter Reed, Springfield	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778934	{22293322,2602358}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778909	266	G6PD	Iwatsuki	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778908	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778971	266	G6PD	Japan, Shinagawa	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778970	{22293322,8193373,1611091}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779023	266	G6PD	Kaiping, Anant, Dhon, Sapporo-like, Wosera	II/Deficient	II/Deficient	\N	\N	779022	{22293322,8935319,1953767}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0070355837, "Central/South Asian": 0.000052762094, "African American/Afro-Caribbean": 0.0}	f
778881	266	G6PD	Kalyan-Kerala, Jamnaga, Rohini	III/Deficient	III/Deficient	\N	\N	778880	{22293322,1303182,15996881}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.00004499883, "East Asian": 0.0, "Central/South Asian": 0.011377339, "African American/Afro-Caribbean": 0.0}	f
778689	266	G6PD	Kambos	III/Deficient	III/Deficient	\N	\N	778688	{22293322,15223006}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779017	266	G6PD	Kamiube, Keelung	III/Deficient	III/Deficient	\N	\N	779016	{22293322,511159,9192788,9444913}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778693	266	G6PD	Kamogawa	II/Deficient	II/Deficient	\N	\N	778692	{22293322,9410474}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778973	266	G6PD	Kawasaki	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778972	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778691	266	G6PD	Kozukata	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778690	{22293322,9410474}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778945	266	G6PD	Krakow	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778944	{22293322,18066402}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778849	266	G6PD	La Jolla	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778848	{22293322,12064902}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778673	266	G6PD	Lages	III/Deficient	III/Deficient	\N	\N	778672	{22293322,9526168}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778725	266	G6PD	Lagosanto	III/Deficient	III/Deficient	\N	\N	778724	{22293322,8370579}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.000010254307, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
779027	266	G6PD	Laibin	Uncertain	Uncertain function	\N	\N	779026	{22293322,17018380}	Inadequate	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778843	266	G6PD	Lille	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778842	{22293322,22139979}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778769	266	G6PD	Liuzhou	II/Deficient	II/Deficient	\N	\N	778768	{22293322,17018380}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778915	266	G6PD	Loma Linda	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778914	{22293322,1999409}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778879	266	G6PD	Ludhiana	II/Deficient	II/Deficient	\N	\N	778878	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778931	266	G6PD	Lynwood	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778930	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778933	266	G6PD	Madrid	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778932	{22293322,9332310}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778777	266	G6PD	Mahidol	III/Deficient	III/Deficient	\N	\N	778776	{22293322,2503817}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.00007218132, "Central/South Asian": 0.000366934, "African American/Afro-Caribbean": 0.0}	f
778797	266	G6PD	Malaga	III/Deficient	III/Deficient	\N	\N	778796	{22293322,8956035,22963789}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.00028541868, "European": 0.00001806179, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0011595425}	f
778885	266	G6PD	Manhattan	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778884	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778985	266	G6PD	Mediterranean Haplotype	II/Deficient	II/Deficient	\N	\N	778984	{22293322,1978554}	Inadequate	\N	Based on function of the 563T variant, present in the Mediterranean, Dallas, Panama‚ Sassari, Cagliari, Birmingham, function was assigned as WHO class II (22293322, 1978554).	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778801	267	G6PD	Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham	II/Deficient	II/Deficient	\N	\N	778800	{22293322,7959686,18226470,11146567,7440223,3393536}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0005865103, "East Asian": 0.0, "Central/South Asian": 0.017349826, "African American/Afro-Caribbean": 0.0002108926}	f
778697	266	G6PD	Metaponto	III/Deficient	III/Deficient	\N	\N	778696	{22293322,2253938}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778823	266	G6PD	Mexico City	III/Deficient	III/Deficient	\N	\N	778822	{22293322,1611091}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.00018234865, "European": 0.000040952138, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778791	266	G6PD	Miaoli	II/Deficient	II/Deficient	\N	\N	778790	{22293322,9444913}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778815	266	G6PD	Minnesota, Marion, Gastonia, LeJeune	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778814	{22293322,1999409,1805484}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.00001025599, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778903	266	G6PD	Mira d'Aire	IV/Normal	IV/Normal	\N	\N	778902	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.00060634164, "European": 0.000009038323, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.00037544584}	f
778861	266	G6PD	Mizushima	II/Deficient	II/Deficient	\N	\N	778860	{22293322,7705842}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778869	266	G6PD	Montalbano	III/Deficient	III/Deficient	\N	\N	778868	{22293322,11146567,2321910}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.000076028286}	f
778921	266	G6PD	Montpellier	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778920	{22293322,22139979}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.000027188444, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778755	266	G6PD	Mt Sinai	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778754	{22293322,32387609,9452072}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778975	266	G6PD	Munich	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778974	{22293322,17637841}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": 0.000010226099, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778719	266	G6PD	Murcia Oristano	III/Deficient	III/Deficient	\N	\N	778718	{22293322,7577654,20621077}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.00007293148, "European": 0.000010226099, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778705	266	G6PD	Musashino	III/Deficient	III/Deficient	\N	\N	778704	{22293322,3591235}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778717	266	G6PD	Namouru	II/Deficient	II/Deficient	\N	\N	778716	{22293322,7825590}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.00020970956, "African American/Afro-Caribbean": 0.0}	f
778789	266	G6PD	Nankang	II/Deficient	II/Deficient	\N	\N	778788	{22293322,8807322,16329560}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.00014430014, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778829	266	G6PD	Nanning	III/Deficient	III/Deficient	\N	\N	778828	{22293322,17018380}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.00033690452, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778785	266	G6PD	Naone	II/Deficient	II/Deficient	\N	\N	778784	{22293322,11852882}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778883	266	G6PD	Nara	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778882	{22293322,8241497}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778949	266	G6PD	Nashville, Anaheim, Portici	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778948	{22293322,16934959,1999409,1536798}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779025	266	G6PD	Neapolis	III/Deficient	III/Deficient	\N	\N	779024	{22293322,9233561}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
779015	266	G6PD	Nice	III/Deficient	III/Deficient	\N	\N	779014	{22293322,9233561}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778809	266	G6PD	Nilgiri	II/Deficient	II/Deficient	\N	\N	778808	{22293322,18043863}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778669	266	G6PD	No name	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778668	{22293322,32387609,21446359}	Inadequate	\N	Function assigned based on evidence supporting complete loss of enzyme activity (32387609)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778825	266	G6PD	North Dallas	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778824	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778927	266	G6PD	Olomouc	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778926	{22293322,7655862}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778877	266	G6PD	Omiya	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778876	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778685	266	G6PD	Orissa	III/Deficient	III/Deficient	\N	\N	778684	{22293322,8533762,20621077}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0016250786, "African American/Afro-Caribbean": 0.0}	f
778867	266	G6PD	Osaka	II/Deficient	II/Deficient	\N	\N	778866	{22293322,1945893,11271380}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778695	266	G6PD	Palestrina	III/Deficient	III/Deficient	\N	\N	778694	{22293322}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778863	266	G6PD	Papua	Uncertain	Uncertain function	\N	\N	778862	{22293322,9410474}	Inadequate	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778905	266	G6PD	Partenope	II/Deficient	II/Deficient	\N	\N	778904	{22293322}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778987	266	G6PD	Pawnee	II/Deficient	II/Deficient	\N	\N	778986	{22293322,1611091}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778803	266	G6PD	Pedoplis-Ckaro	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778802	{22293322,18066402}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778865	266	G6PD	Piotrkow	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778864	{22293322,18066402}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778779	266	G6PD	Plymouth	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778778	{22293322,7577654}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778943	266	G6PD	Praha	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778942	{22293322,7803800}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778955	266	G6PD	Puerto Limon	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778954	{22293322,7160841}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778761	266	G6PD	Quing Yan	III/Deficient	III/Deficient	\N	\N	778760	{22293322,8471773}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778821	266	G6PD	Radlowo	II/Deficient	II/Deficient	\N	\N	778820	{22293322,10571945}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778887	266	G6PD	Rehevot	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778886	{22293322,11112389}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778683	266	G6PD	Rignano	III/Deficient	III/Deficient	\N	\N	778682	{22293322,17524386}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778925	266	G6PD	Riley	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778924	{22293322,7655862}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778969	266	G6PD	Riverside	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778968	{22293322,2602358}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778839	266	G6PD	Roubaix	II/Deficient	II/Deficient	\N	\N	778838	{22293322,22139979}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778993	266	G6PD	S. Antioco	II/Deficient	II/Deficient	\N	\N	778992	{22293322}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778759	266	G6PD	Salerno Pyrgos	III/Deficient	III/Deficient	\N	\N	778758	{22293322,22139979,20621077}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778745	266	G6PD	Santa Maria	II/Deficient	II/Deficient	\N	\N	778744	{22293322,7959686,1879833,9250351}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778807	266	G6PD	Santiago	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778806	{22293322,1611091}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778991	266	G6PD	Santiago de Cuba, Morioka	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778990	{22293322,9192788,3393536}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778737	266	G6PD	Sao Borja	IV/Normal	IV/Normal	\N	\N	778736	{22293322,8436389}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.000054038475, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778857	266	G6PD	Seattle, Lodi, Modena, Ferrara II, Athens-like	III/Deficient	III/Deficient	\N	\N	778856	{22293322,7959686,11146567,7705842,5844610,7947250}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0002496968, "European": 0.0010703556, "East Asian": 0.0, "Central/South Asian": 0.00073390646, "African American/Afro-Caribbean": 0.000052246603}	f
778875	266	G6PD	Seoul	II/Deficient	II/Deficient	\N	\N	778874	{22293322,28028996,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778911	266	G6PD	Serres	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778910	{22293322,9674740}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778773	266	G6PD	Shenzen	II/Deficient	II/Deficient	\N	\N	778772	{22293322,20582980}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778793	266	G6PD	Shinshu	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778792	{22293322,8193373}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778813	266	G6PD	Sibari	III/Deficient	III/Deficient	\N	\N	778812	{22293322,8447319}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.000010243173, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.000036485697}	f
778731	266	G6PD	Sierra Leone	III/Deficient	III/Deficient	\N	\N	778730	{22293322,32387609,18452027}	Inadequate	\N	Function assigned based on evidence supporting decreased enzyme activity resulting in a WHO class III assignment (32387609).	{"Latino": 0.000035720663, "European": 0.0025682764, "East Asian": 0.0, "Central/South Asian": 0.00031527507, "African American/Afro-Caribbean": 0.00015804447}	f
778671	266	G6PD	Sinnai	III/Deficient	III/Deficient	\N	\N	778670	{22293322,10627140}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778707	266	G6PD	Songklanagarind	II/Deficient	II/Deficient	\N	\N	778706	{22293322,15727905}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779029	266	G6PD	Split	III/Deficient	III/Deficient	\N	\N	779028	{22293322,16143877}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778833	266	G6PD	Stonybrook	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778832	{22293322,1611091}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778679	266	G6PD	Sunderland	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778678	{22293322,2005960}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778981	266	G6PD	Surabaya	II/Deficient	II/Deficient	\N	\N	778980	{22293322,11499668}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.000036485697, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778967	266	G6PD	Suwalki	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778966	{22293322,14757424}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778721	266	G6PD	Swansea	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778720	{22293322,7858267}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778781	268	G6PD	Taipei, Chinese-3	II/Deficient	II/Deficient	\N	\N	778780	{22293322,1562739}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0008090069, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
3564277	117	G6PD	Telti, Kobe	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	3564276	{22293322,7327562}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778919	266	G6PD	Tenri	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778918	{22293322}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778977	266	G6PD	Tokyo, Fukushima	I-II/Deficient with CNSHA-Deficient	I/Deficient with CNSHA	\N	\N	778976	{22293322,28028996,7440223,9192788,1733837}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778783	266	G6PD	Toledo	II/Deficient	II/Deficient	\N	\N	778782	{22293322,22139979}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778929	266	G6PD	Tomah	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778928	{22293322,7655862}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778913	266	G6PD	Tondela	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778912	{22293322,21397531}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778899	266	G6PD	Torun	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778898	{22293322,10571945}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778799	266	G6PD	Tsukui	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778798	{22293322,3360447}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778723	266	G6PD	Ube Konan	III/Deficient	III/Deficient	\N	\N	778722	{22293322,511159,7440223,20621077}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.00007135976, "European": 0.0, "East Asian": 0.0000674127, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.000105235464}	f
779001	266	G6PD	Union,Maewo, Chinese-2, Kalo	II/Deficient	II/Deficient	\N	\N	779000	{22293322,4405605,8447319,1303180,8935319}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.00017860332, "European": 0.000045371227, "East Asian": 0.0006079438, "Central/South Asian": 0.00010502547, "African American/Afro-Caribbean": 0.0004229671}	f
778729	266	G6PD	Urayasu	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778728	{22293322,7849299}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778965	266	G6PD	Utrecht	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778964	{22293322,14757426}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778765	266	G6PD	Valladolid	II/Deficient	II/Deficient	\N	\N	778764	{22293322,9332310}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778733	266	G6PD	Vancouver	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778732	{22293322,1353664}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778757	266	G6PD	Vanua Lava	II/Deficient	II/Deficient	\N	\N	778756	{22293322,3591235}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778871	266	G6PD	Viangchan, Jammu	II/Deficient	II/Deficient	\N	\N	778870	{22293322,1805484,3338798}	Moderate	\N	Function assigned based on the WHO recommendations included in PMID 22293322. The presence of this variant in G6PD deficient males (1805484, 3338798) supports this classificaiton.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.002528171, "Central/South Asian": 0.0002621507, "African American/Afro-Caribbean": 0.0}	f
778893	266	G6PD	Villeurbanne	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778892	{22293322,22139979}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778787	266	G6PD	Volendam	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778786	{22293322,10556177}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778835	266	G6PD	Wayne	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778834	{22293322,3565372}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778873	266	G6PD	West Virginia	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778872	{22293322,7803800}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778851	266	G6PD	Wexham	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778850	{22293322,7577654}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778947	266	G6PD	Wisconsin	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778946	{22293322,16934959,7655862}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779021	266	G6PD	Yunan	Uncertain function	Uncertain function	\N	\N	779020	{22293322,11780463}	Inadequate	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778667	267	G6PD	B (reference)	IV/Normal	IV/Normal	\N	\N	778666	{22293322,2572288}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.9772377, "European": 0.99463695, "East Asian": 0.97378683, "Central/South Asian": 0.9557555, "African American/Afro-Caribbean": 0.55657554}	t
110055	115	HLA-B	*15:02	\N	\N	\N	\N	9001	\N	\N	\N	\N	{"Latino": 0.0003047034, "American": 0.0016976056, "European": 0.000065471584, "Oceanian": 0.0079676565, "East Asian": 0.04558424, "Near Eastern": 0.00020407543, "Central/South Asian": 0.025917143, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0009856891}	f
3827873	87	MT-RNR1	m.663A>G	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827872	{8414970,7689389,7550368}	Inadequate evidence	\N	MT-RNR1 663A>G is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. This variant has been identified in individuals with aminoglycoside-induced hearing loss but also in controls after aminoglycoside exposure (8414970, 7689389, 7550368). Therefore, consensus among experts is that there is uncertain risk of aminoglycoside-induced hearing loss associated with this variant.	{"European": 0.0014543316, "East Asian": 0.04993, "Near Eastern": 0.0, "Central/South Asian": 0.003349, "Sub-Saharan African": null}	f
3827875	87	MT-RNR1	m.669T>C	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827874	{17637808,20353758}	Inadequate evidence	\N	MT-RNR1 669T>C is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. There are weak evidence proposing an association with aminoglycoside-induced hearing loss and this variant (17637808, 20353758). Therefore, consensus among experts was uncertain function due to insufficient evidence.	{"European": 0.0025295527, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
3827877	87	MT-RNR1	m.747A>G	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827876	{21205314}	Inadequate evidence	\N	MT-RNR1 747A>G is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (21205314). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.00134, "Sub-Saharan African": null}	f
3827879	87	MT-RNR1	m.786G>A	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827878	{23969527}	Inadequate evidence	\N	MT-RNR1 786G>A is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (23969527). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
3827881	87	MT-RNR1	m.807A>C	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827880	{18830133}	Inadequate evidence	\N	MT-RNR1 807A>C is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (18830133). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3827883	87	MT-RNR1	m.807A>G	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827882	{18830133}	Inadequate evidence	\N	MT-RNR1 807A>G is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (18830133). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3827885	87	MT-RNR1	m.827A>G	\N	normal risk of aminoglycoside-induced hearing loss	\N	\N	3827884	{16782057,18261986,18830133,20353758}	Limited	\N	MT-RNR1 827A>G is assigned a normal risk of aminoglycoside-induced hearing loss based on limited evidence. There are weak evidence proposing an association with aminoglycoside-induced hearing loss (16782057, 18261986, 20353758). However, there is one study showing patients with 827A>G mutation with a history of exposure to aminoglycosides with normal hearing (18830133) and this variant has too high a population frequency in certain haplogroups to be classified as associated with aminoglycoside-induced hearing loss. Therefore, consensus among experts was this variant is associated with normal risk of aminoglycoside-induced hearing loss based on limited evidence.	{"European": 0.0017502992, "East Asian": 0.035319928, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0}	f
3827887	87	MT-RNR1	m.839A>G	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827886	{21205314}	Inadequate evidence	\N	MT-RNR1 839A>G is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (21205314). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.00006424638, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
3827889	87	MT-RNR1	m.896A>G	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827888	{18830133}	Inadequate evidence	\N	MT-RNR1 896A>G is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (18830133). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.0030198046, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
3827891	87	MT-RNR1	m.930A>G	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827890	{18830133}	Inadequate evidence	\N	MT-RNR1 930A>G is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (18830133). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.0432228, "East Asian": 0.004054, "Near Eastern": 0.03408011, "Central/South Asian": 0.007368, "Sub-Saharan African": null}	f
3827901	87	MT-RNR1	m.961T>del+Cn	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827900	{10326749,12037390,7550368,20171168}	\N	\N	MT-RNR1 961>del+Cn is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in three studies and one case report (10326749, 12037390, 7550368); however, one study found this variant in patients without aminoglycoside-induced hearing loss (20171168). Therefore, consensus among experts is that there is uncertain risk of aminoglycoside-induced hearing loss associated with this variant.	{"European": 0.002636598, "East Asian": 0.04951802, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.06856881}	f
778243	172	CYP4F2	*3	\N	\N	\N	\N	778242	\N	\N	\N	\N	{"Latino": 0.25830573, "American": 0.4107687, "European": 0.27461374, "East Asian": 0.23247077, "Near Eastern": 0.35087985, "Central/South Asian": 0.40285128, "Sub-Saharan African": 0.09881758, "African American/Afro-Caribbean": 0.07623351}	f
3827903	87	MT-RNR1	m.988G>A	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827902	{18830133}	Inadequate evidence	\N	MT-RNR 988G>A is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (18830133). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.0010754358, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
3827907	87	MT-RNR1	m.1189T>C	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827906	{22030963}	Inadequate evidence	\N	MT-RNR1 1189T>Cis assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (22030963). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.056569297, "East Asian": 0.0006752, "Near Eastern": 0.22850867, "Central/South Asian": 0.006698, "Sub-Saharan African": null}	f
3827909	87	MT-RNR1	m.1243T>C	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827908	{7550368}	Inadequate evidence	\N	MT-RNR1 1243T>C is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (7550368). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.023302607, "East Asian": 0.0006748, "Near Eastern": 0.01625, "Central/South Asian": 0.02612, "Sub-Saharan African": null}	f
3827911	87	MT-RNR1	m.1494C>T	Conformational change to the mitochondrial 12s rRNA leading to binding of aminoglycoside antibiotics	increased risk of aminoglycoside-induced hearing loss	\N	\N	3827910	{14681830,16380089,17085680,17434445,17698030,17698299,18830133,19682603,20100600,21205314,27397648,29876232,15722487,14681831,19687236,28103015,25474306}	Strong	\N	MT-RNR1 1494C>T is assigned an increased risk of aminoglycoside-induced hearing loss based on strong evidence. Screening of individuals or probands of individuals with aminoglycoside-hearing looss identified 1494C>T in a number of cases (14681830, 16380089, 17085680, 17434445, 17698030, 17698299, 18830133, 19682603, 20100600, 21205314, 27397648, 29876232). LCLs and/or cybrind cell lines with 1494C>T mutation have reduced growth in the presence of aminoglycosides (14681830, 15722487). Paromomycin shows increased binding to rRNA constructs carrying the T allele (19687236). Increased Kd for neomycin binding to A-site constructs carrying the T allele compared to those carrying the C allele (28103015). Cybrid lines with the 1494C>T mutation grown in gentamicin have reduced ATP production and altered mitochondria morphology (25474306). Therefore, consensus among experts was this variant is associated with increased risk of aminoglycoside-induced hearing loss based on strong evidence.	{"European": 0.00034900234, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0006698, "Sub-Saharan African": 0.0}	f
3827913	87	MT-RNR1	m.1520T>C	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827912	{7550368}	Inadequate evidence	\N	MT-RNR1 1520T>C is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (7550368). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.00016057443, "East Asian": 0.008772, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
3827915	87	MT-RNR1	m.1537C>T	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827914	{17637808}	Inadequate evidence	\N	MT-RNR1 1537C>T is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (17637808). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.00038541437, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
3827917	87	MT-RNR1	m.1555A>G	Conformational change to the mitochondrial 12s rRNA leading to binding of aminoglycoside antibiotics	increased risk of aminoglycoside-induced hearing loss	\N	\N	3827916	{7689389,8285309,8414970,9039999,9040738,9111378,9164619,9391883,9490575,9779807,9831149,9950117,10633132,10661905,11174959,11857751,11870684,12031626,12920080,14699607,14755216,15708009,15841390,15917167,16168391,16375862,16458854,16935512,16955413,17341440,17637808,17723226,17999439,18386806,18790089,18820594,18830133,19376484,19818876,19835846,20100600,20111055,20353758,21162657,21205314,21504270,22475488,23256547,24252789,25744662,26497601,27397648,27427311,29805548,24703164,25155176,8687424,9315872,12127547,19687236,28103015,10915767,12054632,21828074}	Definitive	\N	MT-RNR1 1555A>G is assigned an increased risk of aminoglycoside-induced hearing loss based on definitive evidence. Screening of individuals or probands of individuals with aminoglycoside-hearing loss identified 1494C>T in a number of cases (7689389, 8285309, 8414970, 9039999, 9040738, 9111378, 9164619, 9391883, 9490575, 9779807, 9831149, 9950117, 10633132, 10661905, 11174959, 11857751, 11870684, 12031626, 12920080, 14699607, 14755216, 15708009, 15841390, 15917167, 16168391, 16375862, 16458854, 16935512, 16955413, 17341440, 17637808, 17723226, 17999439, 18386806, 18790089, 18820594, 18830133, 19376484, 19818876, 19835846, 20100600, 20111055, 20353758, 21162657, 21205314, 21504270, 22475488, 23256547, 24252789, 25744662, 26497601, 27397648, 27427311, 29805548, 24703164, 25155176). There is inhibiton of translation in fibroblasts and cybrid cell lines with 1555A>G mutation (8687424). Aminoglycosides bind to 12S rRNA carrying the G allele, but not to rRNA with the A allele (9315872, 12127547, 19687236, 28103015). LCLs with the 1555A>G mutation have reduced growth and translation when grown in paromomycin (10915767). No effect of 1555A>G mutation in fibroblast lines. Cybrids with 1555A>G had slower growth in neomycin or paromomycin (12054632, 21828074). Therefore, consensus among experts was this variant is associated with increased risk of aminoglycoside-induced hearing loss based on definitive evidence.	{"European": 0.0011348277, "East Asian": 0.018102558, "Near Eastern": 0.0014195286, "Central/South Asian": 0.0011089911, "Sub-Saharan African": 0.0030045942}	f
3827919	87	MT-RNR1	m.1556C>T	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827918	{15141753}	Inadequate evidence	\N	MT-RNR1 1556C>T is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Case report of of a patient with streptomycin-induced tinnitus carrying this variant (15141753) . Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.000031612555, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
779153	293	RYR1	c.130C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779152	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685321	105	RYR1	c.131G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685320	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685323	105	RYR1	c.152C>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685322	{33767344}	\N	\N	PM1	{"Latino": null, "American": null, "European": 0.0001323, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
3685325	105	RYR1	c.178G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685324	{35849058}	\N	\N	PS4_Sup, PM1	{"Latino": null, "American": null, "European": 0.00001475, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685329	105	RYR1	c.190T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685328	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685331	105	RYR1	c.212C>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685330	{35849058}	\N	\N	PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685333	105	RYR1	c.251C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685332	{35849058}	\N	\N	PS3_Mod, PM1	{"Latino": null, "American": null, "European": 0.00001472, "East Asian": 0.0009731, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685335	105	RYR1	c.418G>A	Likely Benign	Normal function	\N	n/a	3685334	{35849058}	\N	\N	PM1, BS2_Mod, BP4	{"Latino": null, "American": null, "European": 0.0002058, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002414}	f
3685337	105	RYR1	c.455C>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685336	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685339	105	RYR1	c.463C>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685338	{35849058}	\N	\N	PS3_Mod, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685341	105	RYR1	c.467G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685340	{35849058}	\N	\N	PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685343	105	RYR1	c.479A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685342	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779155	293	RYR1	c.487C>T	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779154	{33767344}	\N	\N	PS3, PS4, PM1_Sup, PM5_Sup, PP1_St, PP3_Mod, BS2_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685349	105	RYR1	c.488G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685348	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
779157	293	RYR1	c.488G>T	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779156	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1, PP3_Mod, PP1_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685351	105	RYR1	c.493G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685350	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685353	105	RYR1	c.496G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685352	{35849058}	\N	\N	PS4_Mod, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685355	105	RYR1	c.497A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685354	{35849058}	\N	\N	PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685357	105	RYR1	c.526G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685356	{35849058}	\N	\N	PS4_Mod, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0000483}	f
3685359	105	RYR1	c.528G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685358	{35849058}	\N	\N	PS4_Mod, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685361	105	RYR1	c.529C>T	Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685360	{35849058}	\N	\N	PS2_PM6_Mod, PS4, PM1, PP1_St, PP3_Mod, BS2_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685365	105	RYR1	c.533A>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685364	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685363	105	RYR1	c.533A>G	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685362	{35849058}	\N	\N	PS2_PM6_Mod, PS4_Sup, PM1, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685367	105	RYR1	c.625G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685366	{35849058}	\N	\N	PM1, BP2	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685369	105	RYR1	c.641C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685368	{35849058}	\N	\N	PS4_Mod, PM1, PP1, BS2_Mod, BS3_Sup	{"Latino": null, "American": null, "European": 0.0001911, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0001206}	f
3685371	105	RYR1	c.652G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685370	{35849058}	\N	\N	PS4_Sup, PM1	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685373	105	RYR1	c.677T>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685372	{35849058}	\N	\N	PS4_Mod, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685375	105	RYR1	c.680A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685374	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779161	293	RYR1	c.742G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779160	{33767344}	\N	\N	PS3_Mod, PS4, PM1, PP1, PP3_Mod, BS2_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779159	293	RYR1	c.742G>C	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779158	{33767344}	\N	\N	PS1, PS3_Mod, PS4_Mod, PM1_Sup, PP1_Mod, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": 0.0001922, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685381	105	RYR1	c.946C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685380	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685383	105	RYR1	c.947G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685382	{35849058}	\N	\N	PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": 0.0003861, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779163	293	RYR1	c.982C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779162	{33767344}	\N	\N	PS3_Mod, PS4_Sup, PM1, PP1	{"Latino": null, "American": null, "European": 0.0001883, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685387	105	RYR1	c.992_994dup	Variant of uncertain significance	Uncertain function	\N	n/a	3685386	{35849058}	\N	\N	PS4_Sup, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779165	293	RYR1	c.1021G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779164	{33767344}	\N	\N	PS3_Mod, PS4, PM1, PP1_St, PP3_Mod, BS2_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779167	293	RYR1	c.1021G>C	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779166	{33767344}	\N	\N	PS1, PS3_Mod, PS4_Mod, PM1_Sup, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685393	105	RYR1	c.1024G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685392	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685395	105	RYR1	c.1100G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685394	{35849058}	\N	\N	PS4_Mod, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685397	105	RYR1	c.1100G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685396	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685399	105	RYR1	c.1144C>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685398	{35849058}	\N	\N	PS4_Sup, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685403	105	RYR1	c.1201C>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685402	{35849058}	\N	\N	PS4_Sup, PM1_Sup, PM5	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685405	105	RYR1	c.1201C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685404	{35849058}	\N	\N	PM1_Sup, PM5, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779169	293	RYR1	c.1201C>T	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779168	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1_Sup, PM5, PP1, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000294, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002414}	f
3685409	105	RYR1	c.1202G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685408	{35849058}	\N	\N	PS3_Mod, PS4, PM1, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685407	105	RYR1	c.1202G>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685406	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PM5, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779171	293	RYR1	c.1209C>G	Variant of uncertain significance	Uncertain function	\N	n/a	779170	{}	\N	\N	PS3_Mod, PM1, BS2_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685413	105	RYR1	c.1411C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685412	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685415	105	RYR1	c.1422G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685414	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685417	105	RYR1	c.1453A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685416	{33767344}	\N	\N	PM1	{"Latino": 0.0003276, "American": null, "European": 0.0005588, "East Asian": 0.0001925, "Near Eastern": 0.003165, "Central/South Asian": null, "Sub-Saharan African": 0.0001933}	f
3685419	105	RYR1	c.1459C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685418	{35849058}	\N	\N	PS4_Sup, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685421	105	RYR1	c.1460T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685420	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685423	105	RYR1	c.1475G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685422	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": 0.00008823, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0001208}	f
3685425	105	RYR1	c.1553T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685424	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": 0.00002941, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779173	293	RYR1	c.1565A>C	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779172	{33767344}	\N	\N	PS3, PS4_Sup, PM1, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685429	105	RYR1	c.1565A>G	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685428	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PM5, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779175	293	RYR1	c.1589G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779174	{33767344}	\N	\N	PS4_Mod, PM1, PP3_Mod	{"Latino": null, "American": null, "European": 0.00007351, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685435	105	RYR1	c.1597C>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685434	{33767344}	\N	\N	PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779177	293	RYR1	c.1597C>T	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779176	{33767344}	\N	\N	PS3_Mod, PS4_Sup, PM1, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002414}	f
779179	293	RYR1	c.1598G>A	Variant of uncertain significance	Uncertain function	\N	n/a	779178	{33767344}	\N	\N	PS3_Mod, PM1	{"Latino": null, "American": null, "European": 0.0001764, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.000628}	f
3685439	105	RYR1	c.1615T>C	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685438	{35849058}	\N	\N	PS4_Mod, PM1, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685441	105	RYR1	c.1615T>G	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685440	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PM5_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685443	105	RYR1	c.1630G>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685442	{35849058}	\N	\N	PS4_Sup, PM1, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779181	293	RYR1	c.1654C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779180	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1, PP1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685447	105	RYR1	c.1834G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685446	{35849058}	\N	\N	PS4_Sup, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779183	293	RYR1	c.1840C>T	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779182	{33767344}	\N	\N	PS3_Mod, PS4, PM5, PP1_St, PP3_Mod, BS2_Mod	{"Latino": null, "American": null, "European": 0.00020354411, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002416}	f
779185	293	RYR1	c.1841G>T	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779184	{33767344}	\N	\N	PS3_Mod, PS4, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685453	105	RYR1	c.2050G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685452	{35849058}	\N	\N	PS4_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685455	105	RYR1	c.2122G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685454	{33767344}	\N	\N	None	{"Latino": null, "American": null, "European": 0.00094113953, "East Asian": null, "Near Eastern": 0.00346, "Central/South Asian": null, "Sub-Saharan African": 0.0001207}	f
3685457	105	RYR1	c.2447C>T	Likely Benign	Normal function	\N	n/a	3685456	{35849058}	\N	\N	PS4_Sup, BS2_Mod, BS3_Sup	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002411}	f
3685459	105	RYR1	c.2537C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685458	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685461	105	RYR1	c.2654G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685460	{35849058}	\N	\N	None	{"Latino": 0.00006545, "American": null, "European": 0.0002205, "East Asian": 0.0003857, "Near Eastern": null, "Central/South Asian": 0.0004146, "Sub-Saharan African": 0.00007237}	f
3685463	105	RYR1	c.2797G>A	Benign	Normal function	\N	n/a	3685462	{33767344}	\N	\N	BA1	{"Latino": 0.0004581, "American": null, "European": null, "East Asian": null, "Near Eastern": 0.003165, "Central/South Asian": null, "Sub-Saharan African": 0.004319}	f
3685465	105	RYR1	c.2924G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685464	{35849058}	\N	\N	PS4_Sup, BP4	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685467	105	RYR1	c.2996G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685466	{33767344}	\N	\N	None	{"Latino": 0.00006547, "American": null, "European": 0.0001176, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685475	105	RYR1	c.3166G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685474	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685473	105	RYR1	c.3166G>C	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685472	{35849058}	\N	\N	PS4_Mod, PP1_St	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685477	105	RYR1	c.3172G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685476	{35849058}	\N	\N	PS4_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685479	105	RYR1	c.3224G>A	Likely Benign	Normal function	\N	n/a	3685478	{35849058}	\N	\N	PS4_Sup, BS2_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
3685481	105	RYR1	c.3418C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685480	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00004827}	f
3685483	105	RYR1	c.3527C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685482	{35849058}	\N	\N	BP4	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.0006219, "Sub-Saharan African": null}	f
3685485	105	RYR1	c.3656A>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685484	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685487	105	RYR1	c.3667G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685486	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685489	105	RYR1	c.4024A>G	Benign	Normal function	\N	n/a	3685488	{33767344}	\N	\N	BA1	{"Latino": 0.01629, "American": null, "European": 0.0005883, "East Asian": null, "Near Eastern": 0.0023787767, "Central/South Asian": 0.001244, "Sub-Saharan African": 0.1514}	f
3685491	105	RYR1	c.4178A>G	Benign	Normal function	\N	n/a	3685490	{35849058}	\N	\N	BA1	{"Latino": 0.001703, "American": null, "European": 0.0043866965, "East Asian": null, "Near Eastern": 0.0002882, "Central/South Asian": null, "Sub-Saharan African": 0.001086}	f
3685493	105	RYR1	c.4400A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685492	{33767344}	\N	\N	BP4	{"Latino": null, "American": null, "European": 0.0000149, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685495	105	RYR1	c.4711A>G	Likely Benign	Normal function	\N	n/a	3685494	{33767344}	\N	\N	BS1	{"Latino": 0.002684, "American": null, "European": 0.001618, "East Asian": null, "Near Eastern": 0.001441, "Central/South Asian": 0.0008278, "Sub-Saharan African": 0.00009656}	f
3685497	105	RYR1	c.4747C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685496	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": 0.00012714975, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002414}	f
3685499	105	RYR1	c.4763C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685498	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": 0.0000588, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.0002071, "Sub-Saharan African": 0.000169}	f
3685501	105	RYR1	c.4775C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685500	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002414}	f
3685503	105	RYR1	c.5024T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685502	{35849058}	\N	\N	PS4_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685505	105	RYR1	c.5033A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685504	{35849058}	\N	\N	BP4	{"Latino": 0.0000654, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685507	105	RYR1	c.5036G>A	Likely Benign	Normal function	\N	n/a	3685506	{33767344}	\N	\N	PP3_Mod, BS1, BS2_Mod	{"Latino": 0.000327, "American": null, "European": 0.0017036498, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0001206}	f
3685509	105	RYR1	c.5132A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685508	{35849058}	\N	\N	PS4_Sup, PP1_Sup, PS3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00004827}	f
3685511	105	RYR1	c.5183C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685510	{33767344}	\N	\N	PS4, PP1_St, BP4	{"Latino": null, "American": null, "European": 0.0000294, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685513	105	RYR1	c.5186T>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685512	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685515	105	RYR1	c.5317C>T	Benign	Normal function	\N	n/a	3685514	{33767344}	\N	\N	BA1	{"Latino": null, "American": null, "European": null, "East Asian": 0.01348, "Near Eastern": null, "Central/South Asian": 0.0002069, "Sub-Saharan African": null}	f
3685517	105	RYR1	c.5341T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685516	{35849058}	\N	\N	PS4_Sup, BP4	{"Latino": null, "American": null, "European": 0.00002941, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685519	105	RYR1	c.5360C>T	Benign	Normal function	\N	n/a	3685518	{33767344}	\N	\N	BA1	{"Latino": 0.01753, "American": 0.02632, "European": 0.02158376, "East Asian": 0.0001923, "Near Eastern": 0.029322615, "Central/South Asian": 0.04845, "Sub-Saharan African": 0.004607}	f
3685521	105	RYR1	c.5440A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685520	{35849058}	\N	\N	PS4_Sup, BP4	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685523	105	RYR1	c.5441T>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685522	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685525	105	RYR1	c.5890C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685524	{35849058}	\N	\N	BP4	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685527	105	RYR1	c.6037A>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685526	{35849058}	\N	\N	PS4_Sup, BP4	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685529	105	RYR1	c.6178G>T	Benign	Normal function	\N	n/a	3685528	{33767344}	\N	\N	BA1	{"Latino": 0.05649, "American": 0.0307, "European": 0.06447168, "East Asian": 0.00443, "Near Eastern": 0.09540812, "Central/South Asian": 0.1603, "Sub-Saharan African": 0.01248}	f
3685531	105	RYR1	c.6302T>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685530	{35849058}	\N	\N	PM1, BP4	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": 0.004228129, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
3685533	105	RYR1	c.6304G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685532	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685535	105	RYR1	c.6349G>C	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685534	{35849058}	\N	\N	PS4_Mod, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685537	105	RYR1	c.6377G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685536	{35849058}	\N	\N	PS4_Sup, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685539	105	RYR1	c.6387C>G	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685538	{35849058}	\N	\N	PS4_Mod, PM1, PP1_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685541	105	RYR1	c.6388G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685540	{35849058}	\N	\N	PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": 0.0001925, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
3685543	105	RYR1	c.6478G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685542	{33767344}	\N	\N	PM1	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": 0.0001922, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0004825}	f
779187	293	RYR1	c.6487C>T	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779186	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1_Sup, PM5, PP1_St, PP3_Mod, BS2_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779189	293	RYR1	c.6488G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779188	{33767344}	\N	\N	PS3_Mod, PS4, PM1, PP1_St, PP3_Mod, BS2	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685549	105	RYR1	c.6488G>C	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685548	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PM5, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685551	105	RYR1	c.6488G>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685550	{35849058}	\N	\N	PS4_Sup, PM1_Sup, PM5, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779191	293	RYR1	c.6502G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779190	{33767344}	\N	\N	PS3_Mod, PS4, PM1, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685555	105	RYR1	c.6544A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685554	{35849058}	\N	\N	PS4_Sup, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685557	105	RYR1	c.6548G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685556	{35849058}	\N	\N	PS4_Sup, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685559	105	RYR1	c.6599C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685558	{35849058}	\N	\N	PS4_Sup, PM1, PP1_Mod	{"Latino": null, "American": null, "European": 0.0000294, "East Asian": 0.0001931, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685561	105	RYR1	c.6612C>G	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685560	{35849058}	\N	\N	PS4_Mod, PM1, PP1_Supp	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779193	293	RYR1	c.6617C>G	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779192	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1, PP1_Mod, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779195	293	RYR1	c.6617C>T	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779194	{33767344}	\N	\N	PS3_Mod, PS4, PM1_Sup, PM5, PP1_St, PP3_Mod, BS2	{"Latino": null, "American": null, "European": 0.00006357385, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
3685567	105	RYR1	c.6628G>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685566	{35849058}	\N	\N	PS4_Mod, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685569	105	RYR1	c.6635T>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685568	{35849058}	\N	\N	PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685571	105	RYR1	c.6640G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685570	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": 0.0000294, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0001447}	f
3685575	105	RYR1	c.6670C>T	Likely Benign	Normal function	\N	n/a	3685574	{35849058}	\N	\N	PM1, BS1	{"Latino": null, "American": null, "European": 0.0001029, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.0006211, "Sub-Saharan African": 0.00004826}	f
3685573	105	RYR1	c.6671G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685572	{33767344}	\N	\N	PM1	{"Latino": 0.00006547, "American": null, "European": 0.0000735, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.000207, "Sub-Saharan African": null}	f
3685577	105	RYR1	c.6710G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685576	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685579	105	RYR1	c.6742C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685578	{35849058}	\N	\N	PM1	{"Latino": 0.00006545, "American": null, "European": null, "East Asian": null, "Near Eastern": 0.0002884, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685581	105	RYR1	c.6743G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685580	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": 0.0000441, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685583	105	RYR1	c.6757C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685582	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685585	105	RYR1	c.6838G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685584	{35849058}	\N	\N	PS4_Mod, PM1, PS3_Mod	{"Latino": null, "American": null, "European": 0.00007349, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002412}	f
3685587	105	RYR1	c.6847A>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685586	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779197	293	RYR1	c.7007G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779196	{33767344}	\N	\N	PS3_Mod, PS4, PM1, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": 0.00009409, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
