U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 8899

1.

rs1491583668 has merged into rs34144614 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
    Chromosome:
    14:64583082 (GRCh38)
    14:65049800 (GRCh37)
    Canonical SPDI:
    NC_000014.9:64583075:TTTTTTTTTT:TTTTTT,NC_000014.9:64583075:TTTTTTTTTT:TTTTTTT,NC_000014.9:64583075:TTTTTTTTTT:TTTTTTTT,NC_000014.9:64583075:TTTTTTTTTT:TTTTTTTTT,NC_000014.9:64583075:TTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:64583075:TTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:64583075:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:64583075:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:64583075:TTTTTTTTTT:TTTTTTTTTTTTTTT
    Gene:
    PPP1R36 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTT=0./0 (ALFA)
    HGVS:
    2.

    rs1491427287 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->G
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1491373361 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        14:64560104 (GRCh38)
        14:65026823 (GRCh37)
        Canonical SPDI:
        NC_000014.9:64560104::C
        Gene:
        PPP1R36 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1491294715 has merged into rs1171697200 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          14:64560115 (GRCh38)
          14:65026833 (GRCh37)
          Canonical SPDI:
          NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          PPP1R36 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000014.9:g.64560115_64560133del, NC_000014.9:g.64560116_64560133del, NC_000014.9:g.64560117_64560133del, NC_000014.9:g.64560118_64560133del, NC_000014.9:g.64560119_64560133del, NC_000014.9:g.64560120_64560133del, NC_000014.9:g.64560121_64560133del, NC_000014.9:g.64560122_64560133del, NC_000014.9:g.64560123_64560133del, NC_000014.9:g.64560124_64560133del, NC_000014.9:g.64560125_64560133del, NC_000014.9:g.64560126_64560133del, NC_000014.9:g.64560127_64560133del, NC_000014.9:g.64560128_64560133del, NC_000014.9:g.64560129_64560133del, NC_000014.9:g.64560130_64560133del, NC_000014.9:g.64560131_64560133del, NC_000014.9:g.64560132_64560133del, NC_000014.9:g.64560133del, NC_000014.9:g.64560133dup, NC_000014.9:g.64560132_64560133dup, NC_000014.9:g.64560131_64560133dup, NC_000014.9:g.64560130_64560133dup, NC_000014.9:g.64560129_64560133dup, NC_000014.9:g.64560128_64560133dup, NC_000014.9:g.64560127_64560133dup, NC_000014.9:g.64560126_64560133dup, NC_000014.9:g.64560125_64560133dup, NC_000014.9:g.64560124_64560133dup, NC_000014.9:g.64560123_64560133dup, NC_000014.9:g.64560122_64560133dup, NC_000014.9:g.64560121_64560133dup, NC_000014.9:g.64560120_64560133dup, NC_000014.9:g.64560119_64560133dup, NC_000014.9:g.64560118_64560133dup, NC_000014.9:g.64560113_64560133dup, NC_000014.9:g.64560133_64560134insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.64560133_64560134insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.65026833_65026851del, NC_000014.8:g.65026834_65026851del, NC_000014.8:g.65026835_65026851del, NC_000014.8:g.65026836_65026851del, NC_000014.8:g.65026837_65026851del, NC_000014.8:g.65026838_65026851del, NC_000014.8:g.65026839_65026851del, NC_000014.8:g.65026840_65026851del, NC_000014.8:g.65026841_65026851del, NC_000014.8:g.65026842_65026851del, NC_000014.8:g.65026843_65026851del, NC_000014.8:g.65026844_65026851del, NC_000014.8:g.65026845_65026851del, NC_000014.8:g.65026846_65026851del, NC_000014.8:g.65026847_65026851del, NC_000014.8:g.65026848_65026851del, NC_000014.8:g.65026849_65026851del, NC_000014.8:g.65026850_65026851del, NC_000014.8:g.65026851del, NC_000014.8:g.65026851dup, NC_000014.8:g.65026850_65026851dup, NC_000014.8:g.65026849_65026851dup, NC_000014.8:g.65026848_65026851dup, NC_000014.8:g.65026847_65026851dup, NC_000014.8:g.65026846_65026851dup, NC_000014.8:g.65026845_65026851dup, NC_000014.8:g.65026844_65026851dup, NC_000014.8:g.65026843_65026851dup, NC_000014.8:g.65026842_65026851dup, NC_000014.8:g.65026841_65026851dup, NC_000014.8:g.65026840_65026851dup, NC_000014.8:g.65026839_65026851dup, NC_000014.8:g.65026838_65026851dup, NC_000014.8:g.65026837_65026851dup, NC_000014.8:g.65026836_65026851dup, NC_000014.8:g.65026831_65026851dup, NC_000014.8:g.65026851_65026852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.65026851_65026852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          5.

          rs1491212601 has merged into rs1555350770 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AA>-,A,AAA,AAAA [Show Flanks]
            Chromosome:
            14:64550234 (GRCh38)
            14:65016952 (GRCh37)
            Canonical SPDI:
            NC_000014.9:64550223:AAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:64550223:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:64550223:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:64550223:AAAAAAAAAAAA:AAAAAAAAAAAAAA
            Gene:
            PPP1R36 (Varview)
            Functional Consequence:
            intron_variant,5_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAAA=0./0 (ALFA)
            A=0.00952/160 (TOMMO)
            A=0.10167/61 (NorthernSweden)
            HGVS:
            NC_000014.9:g.64550234_64550235del, NC_000014.9:g.64550235del, NC_000014.9:g.64550235dup, NC_000014.9:g.64550234_64550235dup, NC_000014.8:g.65016952_65016953del, NC_000014.8:g.65016953del, NC_000014.8:g.65016953dup, NC_000014.8:g.65016952_65016953dup, XM_005267354.5:c.-20_-19del, XM_005267354.5:c.-19del, XM_005267354.5:c.-19dup, XM_005267354.5:c.-20_-19dup, XM_005267354.4:c.-20_-19del, XM_005267354.4:c.-19del, XM_005267354.4:c.-19dup, XM_005267354.4:c.-20_-19dup, XM_005267354.3:c.-20_-19del, XM_005267354.3:c.-19del, XM_005267354.3:c.-19dup, XM_005267354.3:c.-20_-19dup, XM_005267354.2:c.-20_-19del, XM_005267354.2:c.-19del, XM_005267354.2:c.-19dup, XM_005267354.2:c.-20_-19dup, XM_005267354.1:c.-19_-18insAAAAAAA, XM_005267354.1:c.-23_-19dup, XM_005267354.1:c.-19_-18insAAAAAA, XM_005267354.1:c.-19_-18insAAAAAAAA, XM_005267354.1:c.-19_-18insAAAAAAAAA
            6.

            rs1491030805 has merged into rs369620598 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
              Chromosome:
              14:64556776 (GRCh38)
              14:65023494 (GRCh37)
              Canonical SPDI:
              NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
              Gene:
              PPP1R36 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TGTGTGTGTGTGTGTGT=0./0 (ALFA)
              -=0.375/15 (GENOME_DK)
              HGVS:
              NC_000014.9:g.64556764GT[6], NC_000014.9:g.64556764GT[8], NC_000014.9:g.64556764GT[9], NC_000014.9:g.64556764GT[10], NC_000014.9:g.64556764GT[11], NC_000014.9:g.64556764GT[12], NC_000014.9:g.64556764GT[13], NC_000014.9:g.64556764GT[14], NC_000014.9:g.64556764GT[15], NC_000014.9:g.64556764GT[17], NC_000014.9:g.64556764GT[18], NC_000014.9:g.64556764GT[19], NC_000014.9:g.64556764GT[20], NC_000014.9:g.64556764GT[21], NC_000014.9:g.64556764GT[22], NC_000014.9:g.64556764GT[23], NC_000014.9:g.64556764GT[24], NC_000014.9:g.64556764GT[25], NC_000014.9:g.64556764GT[26], NC_000014.9:g.64556764GT[27], NC_000014.9:g.64556764GT[28], NC_000014.9:g.64556764GT[30], NC_000014.9:g.64556764GT[31], NC_000014.8:g.65023482GT[6], NC_000014.8:g.65023482GT[8], NC_000014.8:g.65023482GT[9], NC_000014.8:g.65023482GT[10], NC_000014.8:g.65023482GT[11], NC_000014.8:g.65023482GT[12], NC_000014.8:g.65023482GT[13], NC_000014.8:g.65023482GT[14], NC_000014.8:g.65023482GT[15], NC_000014.8:g.65023482GT[17], NC_000014.8:g.65023482GT[18], NC_000014.8:g.65023482GT[19], NC_000014.8:g.65023482GT[20], NC_000014.8:g.65023482GT[21], NC_000014.8:g.65023482GT[22], NC_000014.8:g.65023482GT[23], NC_000014.8:g.65023482GT[24], NC_000014.8:g.65023482GT[25], NC_000014.8:g.65023482GT[26], NC_000014.8:g.65023482GT[27], NC_000014.8:g.65023482GT[28], NC_000014.8:g.65023482GT[30], NC_000014.8:g.65023482GT[31]
              7.

              rs1491018339 has merged into rs11441855 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                14:64553836 (GRCh38)
                14:65020554 (GRCh37)
                Canonical SPDI:
                NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                PPP1R36 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAAAAAA=0./0 (ALFA)
                A=0.125/5 (GENOME_DK)
                HGVS:
                8.

                rs1490950862 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  14:64549716 (GRCh38)
                  14:65016434 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:64549715:A:G
                  Gene:
                  PPP1R36 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490917011 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    14:64578856 (GRCh38)
                    14:65045574 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:64578855:C:A,NC_000014.9:64578855:C:T
                    Gene:
                    PPP1R36 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1490784224 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->C [Show Flanks]
                      Chromosome:
                      14:64553844 (GRCh38)
                      14:65020563 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:64553844:C:CC
                      Gene:
                      PPP1R36 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CC=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490775067 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        14:64585729 (GRCh38)
                        14:65052447 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:64585728:T:A
                        Gene:
                        PPP1R36 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000034/9 (TOPMED)
                        A=0.000036/5 (GnomAD)
                        HGVS:
                        12.

                        rs1490748635 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          14:64569510 (GRCh38)
                          14:65036228 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:64569509:G:C
                          Gene:
                          PPP1R36 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1490718169 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            14:64587063 (GRCh38)
                            14:65053781 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:64587062:T:C
                            Gene:
                            PPP1R36 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            C=0.000021/3 (GnomAD)
                            HGVS:
                            15.

                            rs1490478731 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->GT [Show Flanks]
                              Chromosome:
                              14:64560317 (GRCh38)
                              14:65027036 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:64560317:TGT:TGTGT
                              Gene:
                              PPP1R36 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TGTGT=0./0 (ALFA)
                              TG=0.000004/1 (TOPMED)
                              TG=0.000007/1 (GnomAD)
                              HGVS:
                              16.

                              rs1490460669 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                14:64548684 (GRCh38)
                                14:65015402 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:64548683:A:G
                                Gene:
                                PPP1R36 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000023/6 (TOPMED)
                                G=0.000036/5 (GnomAD)
                                HGVS:
                                17.

                                rs1490368431 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  14:64577384 (GRCh38)
                                  14:65044102 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:64577383:G:A
                                  Gene:
                                  PPP1R36 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  18.

                                  rs1490324889 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    14:64580246 (GRCh38)
                                    14:65046964 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:64580245:T:C
                                    Gene:
                                    PPP1R36 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    19.

                                    rs1490260639 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      14:64553841 (GRCh38)
                                      14:65020559 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:64553840:A:C
                                      Gene:
                                      PPP1R36 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000071/1 (TOMMO)
                                      HGVS:
                                      20.

                                      rs1490255834 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        14:64568081 (GRCh38)
                                        14:65034799 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:64568080:T:C
                                        Gene:
                                        PPP1R36 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000447/2 (ALFA)
                                        C=0.000014/2 (GnomAD)
                                        C=0.000446/2 (Estonian)
                                        HGVS:

                                        Display Settings:

                                        Format
                                        Items per page
                                        Sort by

                                        Send to:

                                        Choose Destination

                                        Supplemental Content

                                        Find related data

                                        Recent activity

                                        Your browsing activity is empty.

                                        Activity recording is turned off.

                                        Turn recording back on

                                        See more...