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Items: 2

1.

rs1920752 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C,G [Show Flanks]
    Chromosome:
    12:91000205 (GRCh38)
    12:91393982 (GRCh37)
    Canonical SPDI:
    NC_000012.12:91000204:T:A,NC_000012.12:91000204:T:C,NC_000012.12:91000204:T:G
    Gene:
    EPYC (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.180414/1343 (ALFA)
    C=0./0 (KOREAN)
    T=0.05/2 (GENOME_DK)
    T=0.108333/65 (NorthernSweden)
    T=0.123786/459 (TWINSUK)
    T=0.125/7 (Siberian)
    T=0.12567/563 (Estonian)
    T=0.13233/510 (ALSPAC)
    T=0.136273/136 (GoNL)
    T=0.166031/87 (SGDP_PRJ)
    T=0.192073/63 (HapMap)
    T=0.194444/42 (Qatari)
    T=0.199305/52754 (TOPMED)
    T=0.201232/3372 (TOMMO)
    T=0.2208/1106 (1000Genomes)
    T=0.237991/436 (Korea1K)
    T=0.263889/57 (Vietnamese)
    HGVS:

    PubMedLitVar

    2.

    rs61299332 has merged into rs1920752 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C,G [Show Flanks]
      Chromosome:
      12:91000205 (GRCh38)
      12:91393982 (GRCh37)
      Canonical SPDI:
      NC_000012.12:91000204:T:A,NC_000012.12:91000204:T:C,NC_000012.12:91000204:T:G
      Gene:
      EPYC (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.180414/1343 (ALFA)
      C=0./0 (KOREAN)
      T=0.05/2 (GENOME_DK)
      T=0.108333/65 (NorthernSweden)
      T=0.123786/459 (TWINSUK)
      T=0.125/7 (Siberian)
      T=0.12567/563 (Estonian)
      T=0.13233/510 (ALSPAC)
      T=0.136273/136 (GoNL)
      T=0.166031/87 (SGDP_PRJ)
      T=0.192073/63 (HapMap)
      T=0.194444/42 (Qatari)
      T=0.199305/52754 (TOPMED)
      T=0.201232/3372 (TOMMO)
      T=0.2208/1106 (1000Genomes)
      T=0.237991/436 (Korea1K)
      T=0.263889/57 (Vietnamese)
      HGVS:

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