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Items: 6

1.

rs826778 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    12:91281952 (GRCh38)
    12:91675729 (GRCh37)
    Canonical SPDI:
    NC_000012.12:91281951:C:A
    Gene:
    LOC105369896 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.304785/62776 (ALFA)
    C=0.153846/8 (Siberian)
    C=0.154476/283 (Korea1K)
    C=0.156345/2620 (TOMMO)
    C=0.162879/129 (PRJEB37584)
    C=0.166667/36 (Vietnamese)
    C=0.172414/90 (SGDP_PRJ)
    C=0.176109/516 (KOREAN)
    C=0.225/9 (GENOME_DK)
    C=0.25/150 (NorthernSweden)
    C=0.258201/488 (HapMap)
    C=0.258745/1296 (1000Genomes)
    C=0.2625/1176 (Estonian)
    C=0.268537/268 (GoNL)
    C=0.304004/42560 (GnomAD)
    C=0.307983/1142 (TWINSUK)
    C=0.30877/1190 (ALSPAC)
    C=0.309264/81859 (TOPMED)
    C=0.319444/69 (Qatari)
    HGVS:

    2.

    rs60309839 has merged into rs826778 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      12:91281952 (GRCh38)
      12:91675729 (GRCh37)
      Canonical SPDI:
      NC_000012.12:91281951:C:A
      Gene:
      LOC105369896 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.304785/62776 (ALFA)
      C=0.153846/8 (Siberian)
      C=0.154476/283 (Korea1K)
      C=0.156345/2620 (TOMMO)
      C=0.162879/129 (PRJEB37584)
      C=0.166667/36 (Vietnamese)
      C=0.172414/90 (SGDP_PRJ)
      C=0.176109/516 (KOREAN)
      C=0.225/9 (GENOME_DK)
      C=0.25/150 (NorthernSweden)
      C=0.258201/488 (HapMap)
      C=0.258745/1296 (1000Genomes)
      C=0.2625/1176 (Estonian)
      C=0.268537/268 (GoNL)
      C=0.304004/42560 (GnomAD)
      C=0.307983/1142 (TWINSUK)
      C=0.30877/1190 (ALSPAC)
      C=0.309264/81859 (TOPMED)
      C=0.319444/69 (Qatari)
      HGVS:

      3.

      rs2686685 has merged into rs826778 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        12:91281952 (GRCh38)
        12:91675729 (GRCh37)
        Canonical SPDI:
        NC_000012.12:91281951:C:A
        Gene:
        LOC105369896 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.304785/62776 (ALFA)
        C=0.153846/8 (Siberian)
        C=0.154476/283 (Korea1K)
        C=0.156345/2620 (TOMMO)
        C=0.162879/129 (PRJEB37584)
        C=0.166667/36 (Vietnamese)
        C=0.172414/90 (SGDP_PRJ)
        C=0.176109/516 (KOREAN)
        C=0.225/9 (GENOME_DK)
        C=0.25/150 (NorthernSweden)
        C=0.258201/488 (HapMap)
        C=0.258745/1296 (1000Genomes)
        C=0.2625/1176 (Estonian)
        C=0.268537/268 (GoNL)
        C=0.304004/42560 (GnomAD)
        C=0.307983/1142 (TWINSUK)
        C=0.30877/1190 (ALSPAC)
        C=0.309264/81859 (TOPMED)
        C=0.319444/69 (Qatari)
        HGVS:

        4.

        rs1797286 has merged into rs826778 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          12:91281952 (GRCh38)
          12:91675729 (GRCh37)
          Canonical SPDI:
          NC_000012.12:91281951:C:A
          Gene:
          LOC105369896 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.304785/62776 (ALFA)
          C=0.153846/8 (Siberian)
          C=0.154476/283 (Korea1K)
          C=0.156345/2620 (TOMMO)
          C=0.162879/129 (PRJEB37584)
          C=0.166667/36 (Vietnamese)
          C=0.172414/90 (SGDP_PRJ)
          C=0.176109/516 (KOREAN)
          C=0.225/9 (GENOME_DK)
          C=0.25/150 (NorthernSweden)
          C=0.258201/488 (HapMap)
          C=0.258745/1296 (1000Genomes)
          C=0.2625/1176 (Estonian)
          C=0.268537/268 (GoNL)
          C=0.304004/42560 (GnomAD)
          C=0.307983/1142 (TWINSUK)
          C=0.30877/1190 (ALSPAC)
          C=0.309264/81859 (TOPMED)
          C=0.319444/69 (Qatari)
          HGVS:

          5.

          rs1280655 has merged into rs826778 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            12:91281952 (GRCh38)
            12:91675729 (GRCh37)
            Canonical SPDI:
            NC_000012.12:91281951:C:A
            Gene:
            LOC105369896 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.304785/62776 (ALFA)
            C=0.153846/8 (Siberian)
            C=0.154476/283 (Korea1K)
            C=0.156345/2620 (TOMMO)
            C=0.162879/129 (PRJEB37584)
            C=0.166667/36 (Vietnamese)
            C=0.172414/90 (SGDP_PRJ)
            C=0.176109/516 (KOREAN)
            C=0.225/9 (GENOME_DK)
            C=0.25/150 (NorthernSweden)
            C=0.258201/488 (HapMap)
            C=0.258745/1296 (1000Genomes)
            C=0.2625/1176 (Estonian)
            C=0.268537/268 (GoNL)
            C=0.304004/42560 (GnomAD)
            C=0.307983/1142 (TWINSUK)
            C=0.30877/1190 (ALSPAC)
            C=0.309264/81859 (TOPMED)
            C=0.319444/69 (Qatari)
            HGVS:

            6.

            rs1280447 has merged into rs826778 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              12:91281952 (GRCh38)
              12:91675729 (GRCh37)
              Canonical SPDI:
              NC_000012.12:91281951:C:A
              Gene:
              LOC105369896 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.304785/62776 (ALFA)
              C=0.153846/8 (Siberian)
              C=0.154476/283 (Korea1K)
              C=0.156345/2620 (TOMMO)
              C=0.162879/129 (PRJEB37584)
              C=0.166667/36 (Vietnamese)
              C=0.172414/90 (SGDP_PRJ)
              C=0.176109/516 (KOREAN)
              C=0.225/9 (GENOME_DK)
              C=0.25/150 (NorthernSweden)
              C=0.258201/488 (HapMap)
              C=0.258745/1296 (1000Genomes)
              C=0.2625/1176 (Estonian)
              C=0.268537/268 (GoNL)
              C=0.304004/42560 (GnomAD)
              C=0.307983/1142 (TWINSUK)
              C=0.30877/1190 (ALSPAC)
              C=0.309264/81859 (TOPMED)
              C=0.319444/69 (Qatari)
              HGVS:

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