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Items: 2

1.

rs5751129 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    22:41619761 (GRCh38)
    22:42015765 (GRCh37)
    Canonical SPDI:
    NC_000022.11:41619760:C:G,NC_000022.11:41619760:C:T
    Gene:
    XRCC6 (Varview), DESI1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.268032/6072 (ALFA)
    C=0.067385/50 (PRJEB37584)
    C=0.069869/128 (Korea1K)
    C=0.073038/214 (KOREAN)
    C=0.07612/1276 (TOMMO)
    C=0.083333/18 (Vietnamese)
    C=0.15/6 (GENOME_DK)
    C=0.172489/79 (SGDP_PRJ)
    C=0.181696/814 (Estonian)
    C=0.183367/183 (GoNL)
    C=0.193096/716 (TWINSUK)
    C=0.194084/748 (ALSPAC)
    C=0.2/10 (Siberian)
    C=0.215/129 (NorthernSweden)
    C=0.311102/43558 (GnomAD)
    C=0.33478/88613 (TOPMED)
    C=0.348688/1746 (1000Genomes)
    C=0.361522/684 (HapMap)
    C=0.398148/86 (Qatari)
    HGVS:

    PubMed

    2.

    rs59767229 has merged into rs5751129 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      22:41619761 (GRCh38)
      22:42015765 (GRCh37)
      Canonical SPDI:
      NC_000022.11:41619760:C:G,NC_000022.11:41619760:C:T
      Gene:
      XRCC6 (Varview), DESI1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.268032/6072 (ALFA)
      C=0.067385/50 (PRJEB37584)
      C=0.069869/128 (Korea1K)
      C=0.073038/214 (KOREAN)
      C=0.07612/1276 (TOMMO)
      C=0.083333/18 (Vietnamese)
      C=0.15/6 (GENOME_DK)
      C=0.172489/79 (SGDP_PRJ)
      C=0.181696/814 (Estonian)
      C=0.183367/183 (GoNL)
      C=0.193096/716 (TWINSUK)
      C=0.194084/748 (ALSPAC)
      C=0.2/10 (Siberian)
      C=0.215/129 (NorthernSweden)
      C=0.311102/43558 (GnomAD)
      C=0.33478/88613 (TOPMED)
      C=0.348688/1746 (1000Genomes)
      C=0.361522/684 (HapMap)
      C=0.398148/86 (Qatari)
      HGVS:

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