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1.

rs3918289 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    1:97450059 (GRCh38)
    1:97915615 (GRCh37)
    Canonical SPDI:
    NC_000001.11:97450058:G:A,NC_000001.11:97450058:G:C
    Gene:
    DPYD (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
    Clinical significance:
    benign-likely-benign,uncertain-significance
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000489/147 (ALFA)
    A=0./0 (HapMap)
    A=0./0 (TWINSUK)
    A=0.000051/4 (PAGE_STUDY)
    C=0.000156/1 (1000Genomes_30X)
    C=0.0002/1 (1000Genomes)
    A=0.000253/67 (TOPMED)
    A=0.000308/4 (GoESP)
    A=0.000519/2 (ALSPAC)
    A=0.000684/2 (KOREAN)
    A=0.001873/1 (MGP)
    A=0.002769/9 (PRJEB37766)
    HGVS:
    NC_000001.11:g.97450059G>A, NC_000001.11:g.97450059G>C, NC_000001.10:g.97915615G>A, NC_000001.10:g.97915615G>C, NG_008807.2:g.476001C>T, NG_008807.2:g.476001C>G, NM_000110.4:c.1905C>T, NM_000110.4:c.1905C>G, NM_000110.3:c.1905C>T, NM_000110.3:c.1905C>G, XM_006710397.4:c.1905C>T, XM_006710397.4:c.1905C>G, XM_006710397.3:c.1905C>T, XM_006710397.3:c.1905C>G, XM_006710397.2:c.1905C>T, XM_006710397.2:c.1905C>G, XM_006710397.1:c.1905C>T, XM_006710397.1:c.1905C>G, XM_005270562.3:c.1689C>T, XM_005270562.3:c.1689C>G, XM_005270562.2:c.1689C>T, XM_005270562.2:c.1689C>G, XM_005270562.1:c.1689C>T, XM_005270562.1:c.1689C>G, XM_017000507.2:c.1794C>T, XM_017000507.2:c.1794C>G, XM_017000507.1:c.1794C>T, XM_017000507.1:c.1794C>G, XM_047448076.1:c.1677C>T, XM_047448076.1:c.1677C>G, XM_047448077.1:c.1578C>T, XM_047448077.1:c.1578C>G, NP_000101.2:p.Asn635Lys, XP_006710460.1:p.Asn635Lys, XP_005270619.2:p.Asn563Lys, XP_016855996.1:p.Asn598Lys, XP_047304032.1:p.Asn559Lys, XP_047304033.1:p.Asn526Lys

    PubMed

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