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Links from PMC

Items: 2

1.

rs11649476 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    16:70702849 (GRCh38)
    16:70736752 (GRCh37)
    Canonical SPDI:
    NC_000016.10:70702848:C:T
    Gene:
    VAC14 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.423412/30224 (ALFA)
    T=0.046397/85 (Korea1K)
    T=0.050992/149 (KOREAN)
    T=0.103334/1732 (TOMMO)
    T=0.215566/385 (HapMap)
    T=0.232667/1165 (1000Genomes)
    T=0.267754/558 (HGDP_Stanford)
    T=0.316476/83768 (TOPMED)
    T=0.328704/71 (Qatari)
    T=0.335697/47017 (GnomAD)
    C=0.375/12 (Siberian)
    C=0.402174/74 (SGDP_PRJ)
    T=0.423848/423 (GoNL)
    T=0.426667/256 (NorthernSweden)
    T=0.451187/1673 (TWINSUK)
    T=0.462896/1784 (ALSPAC)
    C=0.487805/40 (PRJEB36033)
    T=0.49442/2215 (Estonian)
    HGVS:
    2.

    rs10792421 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C,T [Show Flanks]
      Chromosome:
      11:63837705 (GRCh38)
      11:63605177 (GRCh37)
      Canonical SPDI:
      NC_000011.10:63837704:G:A,NC_000011.10:63837704:G:C,NC_000011.10:63837704:G:T
      Gene:
      MARK2 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.45525/65220 (ALFA)
      T=0./0 (KOREAN)
      G=0.10889/1825 (TOMMO)
      G=0.169811/36 (Vietnamese)
      G=0.194175/80 (SGDP_PRJ)
      G=0.25/12 (Siberian)
      G=0.275/11 (GENOME_DK)
      G=0.433316/1670 (ALSPAC)
      G=0.441884/441 (GoNL)
      G=0.447768/2006 (Estonian)
      A=0.450794/852 (HapMap)
      G=0.452265/1677 (TWINSUK)
      A=0.465953/65212 (GnomAD)
      A=0.472222/102 (Qatari)
      A=0.479648/126958 (TOPMED)
      G=0.493333/296 (NorthernSweden)
      A=0.499219/2500 (1000Genomes)
      HGVS:

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