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Items: 3

1.

rs1920748 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    12:91005279 (GRCh38)
    12:91399056 (GRCh37)
    Canonical SPDI:
    NC_000012.12:91005278:C:T
    Gene:
    EPYC (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.117095/2459 (ALFA)
    C=0.05/2 (GENOME_DK)
    C=0.053571/3 (Siberian)
    C=0.073333/44 (NorthernSweden)
    C=0.078467/43 (SGDP_PRJ)
    C=0.082171/1377 (TOMMO)
    C=0.084358/247 (KOREAN)
    C=0.093886/172 (Korea1K)
    C=0.096346/483 (1000Genomes)
    C=0.101562/455 (Estonian)
    C=0.104908/389 (TWINSUK)
    C=0.105086/405 (ALSPAC)
    C=0.113226/113 (GoNL)
    C=0.11746/222 (HapMap)
    C=0.123859/17337 (GnomAD)
    C=0.12492/33065 (TOPMED)
    C=0.127358/27 (Vietnamese)
    C=0.143519/31 (Qatari)
    HGVS:

    PubMedLitVar

    2.

    rs386549129 has merged into rs1920748 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      12:91005279 (GRCh38)
      12:91399056 (GRCh37)
      Canonical SPDI:
      NC_000012.12:91005278:C:T
      Gene:
      EPYC (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.117095/2459 (ALFA)
      C=0.05/2 (GENOME_DK)
      C=0.053571/3 (Siberian)
      C=0.073333/44 (NorthernSweden)
      C=0.078467/43 (SGDP_PRJ)
      C=0.082171/1377 (TOMMO)
      C=0.084358/247 (KOREAN)
      C=0.093886/172 (Korea1K)
      C=0.096346/483 (1000Genomes)
      C=0.101562/455 (Estonian)
      C=0.104908/389 (TWINSUK)
      C=0.105086/405 (ALSPAC)
      C=0.113226/113 (GoNL)
      C=0.11746/222 (HapMap)
      C=0.123859/17337 (GnomAD)
      C=0.12492/33065 (TOPMED)
      C=0.127358/27 (Vietnamese)
      C=0.143519/31 (Qatari)
      HGVS:

      3.

      rs60444461 has merged into rs1920748 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        12:91005279 (GRCh38)
        12:91399056 (GRCh37)
        Canonical SPDI:
        NC_000012.12:91005278:C:T
        Gene:
        EPYC (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.117095/2459 (ALFA)
        C=0.05/2 (GENOME_DK)
        C=0.053571/3 (Siberian)
        C=0.073333/44 (NorthernSweden)
        C=0.078467/43 (SGDP_PRJ)
        C=0.082171/1377 (TOMMO)
        C=0.084358/247 (KOREAN)
        C=0.093886/172 (Korea1K)
        C=0.096346/483 (1000Genomes)
        C=0.101562/455 (Estonian)
        C=0.104908/389 (TWINSUK)
        C=0.105086/405 (ALSPAC)
        C=0.113226/113 (GoNL)
        C=0.11746/222 (HapMap)
        C=0.123859/17337 (GnomAD)
        C=0.12492/33065 (TOPMED)
        C=0.127358/27 (Vietnamese)
        C=0.143519/31 (Qatari)
        HGVS:

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