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1.

rs35040247 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    1:26368507 (GRCh38)
    1:26694998 (GRCh37)
    Canonical SPDI:
    NC_000001.11:26368506:C:A,NC_000001.11:26368506:C:T
    Gene:
    ZNF683 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.001742/377 (ALFA)
    A=0.00463/1 (Qatari)
    A=0.008826/1317 (GnomAD_genomes)
    A=0.009585/48 (1000Genomes)
    A=0.00991/2623 (TOPMED)
    A=0.010072/131 (GoESP)
    A=0.010618/68 (1000Genomes_30X)
    A=0.014079/1108 (PAGE_STUDY)
    C=0.5/3 (SGDP_PRJ)
    HGVS:
    NC_000001.11:g.26368507C>A, NC_000001.11:g.26368507C>T, NC_000001.10:g.26694998C>A, NC_000001.10:g.26694998C>T, XM_006710555.4:c.92G>T, XM_006710555.4:c.92G>A, XM_006710555.3:c.92G>T, XM_006710555.3:c.92G>A, XM_006710555.2:c.92G>T, XM_006710555.2:c.92G>A, XM_006710555.1:c.92G>T, XM_006710555.1:c.92G>A, XM_005245828.4:c.89G>T, XM_005245828.4:c.89G>A, XM_005245828.3:c.89G>T, XM_005245828.3:c.89G>A, XM_005245828.2:c.89G>T, XM_005245828.2:c.89G>A, XM_005245828.1:c.89G>T, XM_005245828.1:c.89G>A, XM_005245832.4:c.65G>T, XM_005245832.4:c.65G>A, XM_005245832.3:c.65G>T, XM_005245832.3:c.65G>A, XM_005245832.2:c.65G>T, XM_005245832.2:c.65G>A, XM_005245832.1:c.65G>T, XM_005245832.1:c.65G>A, XM_005245830.4:c.65G>T, XM_005245830.4:c.65G>A, XM_005245830.3:c.65G>T, XM_005245830.3:c.65G>A, XM_005245830.2:c.65G>T, XM_005245830.2:c.65G>A, XM_005245830.1:c.65G>T, XM_005245830.1:c.65G>A, XM_017000954.3:c.92G>T, XM_017000954.3:c.92G>A, XM_017000954.2:c.92G>T, XM_017000954.2:c.92G>A, XM_017000954.1:c.92G>T, XM_017000954.1:c.92G>A, XM_017000957.3:c.92G>T, XM_017000957.3:c.92G>A, XM_017000957.2:c.92G>T, XM_017000957.2:c.92G>A, XM_017000957.1:c.92G>T, XM_017000957.1:c.92G>A, XM_011541198.3:c.65G>T, XM_011541198.3:c.65G>A, XM_011541198.2:c.65G>T, XM_011541198.2:c.65G>A, XM_011541198.1:c.65G>T, XM_011541198.1:c.65G>A, NM_173574.3:c.65G>T, NM_173574.3:c.65G>A, NM_173574.2:c.65G>T, NM_173574.2:c.65G>A, NM_001114759.3:c.65G>T, NM_001114759.3:c.65G>A, NM_001114759.2:c.65G>T, NM_001114759.2:c.65G>A, NM_001114759.1:c.65G>T, NM_001114759.1:c.65G>A, XM_017000956.2:c.89G>T, XM_017000956.2:c.89G>A, XM_017000956.1:c.89G>T, XM_017000956.1:c.89G>A, NM_001307925.1:c.65G>T, NM_001307925.1:c.65G>A, XM_047417136.1:c.92G>T, XM_047417136.1:c.92G>A, XP_006710618.1:p.Gly31Val, XP_006710618.1:p.Gly31Glu, XP_005245885.1:p.Gly30Val, XP_005245885.1:p.Gly30Glu, XP_005245889.1:p.Gly22Val, XP_005245889.1:p.Gly22Glu, XP_005245887.1:p.Gly22Val, XP_005245887.1:p.Gly22Glu, XP_016856443.1:p.Gly31Val, XP_016856443.1:p.Gly31Glu, XP_016856446.1:p.Gly31Val, XP_016856446.1:p.Gly31Glu, XP_011539500.1:p.Gly22Val, XP_011539500.1:p.Gly22Glu, NP_775845.2:p.Gly22Val, NP_775845.2:p.Gly22Glu, NP_001108231.1:p.Gly22Val, NP_001108231.1:p.Gly22Glu, XP_016856445.1:p.Gly30Val, XP_016856445.1:p.Gly30Glu, NP_001294854.1:p.Gly22Val, NP_001294854.1:p.Gly22Glu, XP_047273092.1:p.Gly31Val, XP_047273092.1:p.Gly31Glu

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