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Items: 3

1.

rs2245775 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C,G [Show Flanks]
    Chromosome:
    12:91051711 (GRCh38)
    12:91445488 (GRCh37)
    Canonical SPDI:
    NC_000012.12:91051710:T:A,NC_000012.12:91051710:T:C,NC_000012.12:91051710:T:G
    Gene:
    KERA (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    T=0.160714/9 (Siberian)
    T=0.175/105 (NorthernSweden)
    T=0.196203/93 (SGDP_PRJ)
    T=0.200108/742 (TWINSUK)
    T=0.202128/779 (ALSPAC)
    T=0.202924/3401 (TOMMO)
    T=0.218304/978 (Estonian)
    T=0.224915/659 (KOREAN)
    T=0.225/9 (GENOME_DK)
    T=0.225451/225 (GoNL)
    T=0.242904/445 (Korea1K)
    T=0.252381/53 (Vietnamese)
    T=0.305556/66 (Qatari)
    T=0.371321/98285 (TOPMED)
    T=0.382573/1916 (1000Genomes)
    T=0.422669/798 (HapMap)
    HGVS:
    2.

    rs60180492 has merged into rs2245775 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C,G [Show Flanks]
      Chromosome:
      12:91051711 (GRCh38)
      12:91445488 (GRCh37)
      Canonical SPDI:
      NC_000012.12:91051710:T:A,NC_000012.12:91051710:T:C,NC_000012.12:91051710:T:G
      Gene:
      KERA (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      T=0.160714/9 (Siberian)
      T=0.175/105 (NorthernSweden)
      T=0.196203/93 (SGDP_PRJ)
      T=0.200108/742 (TWINSUK)
      T=0.202128/779 (ALSPAC)
      T=0.202924/3401 (TOMMO)
      T=0.218304/978 (Estonian)
      T=0.224915/659 (KOREAN)
      T=0.225/9 (GENOME_DK)
      T=0.225451/225 (GoNL)
      T=0.242904/445 (Korea1K)
      T=0.252381/53 (Vietnamese)
      T=0.305556/66 (Qatari)
      T=0.371321/98285 (TOPMED)
      T=0.382573/1916 (1000Genomes)
      T=0.422669/798 (HapMap)
      HGVS:
      3.

      rs58349810 has merged into rs2245775 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A,C,G [Show Flanks]
        Chromosome:
        12:91051711 (GRCh38)
        12:91445488 (GRCh37)
        Canonical SPDI:
        NC_000012.12:91051710:T:A,NC_000012.12:91051710:T:C,NC_000012.12:91051710:T:G
        Gene:
        KERA (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        T=0.160714/9 (Siberian)
        T=0.175/105 (NorthernSweden)
        T=0.196203/93 (SGDP_PRJ)
        T=0.200108/742 (TWINSUK)
        T=0.202128/779 (ALSPAC)
        T=0.202924/3401 (TOMMO)
        T=0.218304/978 (Estonian)
        T=0.224915/659 (KOREAN)
        T=0.225/9 (GENOME_DK)
        T=0.225451/225 (GoNL)
        T=0.242904/445 (Korea1K)
        T=0.252381/53 (Vietnamese)
        T=0.305556/66 (Qatari)
        T=0.371321/98285 (TOPMED)
        T=0.382573/1916 (1000Genomes)
        T=0.422669/798 (HapMap)
        HGVS:

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