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Items: 1 to 20 of 16927

1.

rs1491517158 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    5:150516976 (GRCh38)
    5:149896538 (GRCh37)
    Canonical SPDI:
    NC_000005.10:150516975:AG:
    Gene:
    NDST1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.000046/5 (GnomAD)
    HGVS:

    2.

    rs1491497028 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      5:150536519 (GRCh38)
      5:149916081 (GRCh37)
      Canonical SPDI:
      NC_000005.10:150536518:AT:
      Gene:
      NDST1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000014/2 (GnomAD)
      HGVS:

      3.

      rs1491489109 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        5:150484540 (GRCh38)
        5:149864103 (GRCh37)
        Canonical SPDI:
        NC_000005.10:150484539:AT:
        Gene:
        NDST1-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        -=0.000029/3 (GnomAD)
        HGVS:

        4.

        rs1491417283 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          5:150529390 (GRCh38)
          5:149908952 (GRCh37)
          Canonical SPDI:
          NC_000005.10:150529389:CA:
          Gene:
          NDST1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00219/26 (ALFA)
          HGVS:

          5.

          rs1491331258 has merged into rs1164486806 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            5:150493181 (GRCh38)
            5:149872743 (GRCh37)
            Canonical SPDI:
            NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150493168:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTT=0./0 (ALFA)
            HGVS:
            NC_000005.10:g.150493181_150493197del, NC_000005.10:g.150493182_150493197del, NC_000005.10:g.150493183_150493197del, NC_000005.10:g.150493184_150493197del, NC_000005.10:g.150493185_150493197del, NC_000005.10:g.150493186_150493197del, NC_000005.10:g.150493187_150493197del, NC_000005.10:g.150493188_150493197del, NC_000005.10:g.150493189_150493197del, NC_000005.10:g.150493190_150493197del, NC_000005.10:g.150493191_150493197del, NC_000005.10:g.150493192_150493197del, NC_000005.10:g.150493193_150493197del, NC_000005.10:g.150493194_150493197del, NC_000005.10:g.150493195_150493197del, NC_000005.10:g.150493196_150493197del, NC_000005.10:g.150493197del, NC_000005.10:g.150493197dup, NC_000005.10:g.150493196_150493197dup, NC_000005.10:g.150493195_150493197dup, NC_000005.10:g.150493194_150493197dup, NC_000005.10:g.150493193_150493197dup, NC_000005.10:g.150493192_150493197dup, NC_000005.10:g.150493191_150493197dup, NC_000005.10:g.150493190_150493197dup, NC_000005.10:g.150493189_150493197dup, NC_000005.10:g.150493188_150493197dup, NC_000005.10:g.150493187_150493197dup, NC_000005.10:g.150493186_150493197dup, NC_000005.10:g.150493185_150493197dup, NC_000005.10:g.150493184_150493197dup, NC_000005.10:g.150493183_150493197dup, NC_000005.10:g.150493182_150493197dup, NC_000005.10:g.150493181_150493197dup, NC_000005.10:g.150493180_150493197dup, NC_000005.10:g.150493178_150493197dup, NC_000005.10:g.150493177_150493197dup, NC_000005.10:g.150493197_150493198insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.149872743_149872759del, NC_000005.9:g.149872744_149872759del, NC_000005.9:g.149872745_149872759del, NC_000005.9:g.149872746_149872759del, NC_000005.9:g.149872747_149872759del, NC_000005.9:g.149872748_149872759del, NC_000005.9:g.149872749_149872759del, NC_000005.9:g.149872750_149872759del, NC_000005.9:g.149872751_149872759del, NC_000005.9:g.149872752_149872759del, NC_000005.9:g.149872753_149872759del, NC_000005.9:g.149872754_149872759del, NC_000005.9:g.149872755_149872759del, NC_000005.9:g.149872756_149872759del, NC_000005.9:g.149872757_149872759del, NC_000005.9:g.149872758_149872759del, NC_000005.9:g.149872759del, NC_000005.9:g.149872759dup, NC_000005.9:g.149872758_149872759dup, NC_000005.9:g.149872757_149872759dup, NC_000005.9:g.149872756_149872759dup, NC_000005.9:g.149872755_149872759dup, NC_000005.9:g.149872754_149872759dup, NC_000005.9:g.149872753_149872759dup, NC_000005.9:g.149872752_149872759dup, NC_000005.9:g.149872751_149872759dup, NC_000005.9:g.149872750_149872759dup, NC_000005.9:g.149872749_149872759dup, NC_000005.9:g.149872748_149872759dup, NC_000005.9:g.149872747_149872759dup, NC_000005.9:g.149872746_149872759dup, NC_000005.9:g.149872745_149872759dup, NC_000005.9:g.149872744_149872759dup, NC_000005.9:g.149872743_149872759dup, NC_000005.9:g.149872742_149872759dup, NC_000005.9:g.149872740_149872759dup, NC_000005.9:g.149872739_149872759dup, NC_000005.9:g.149872759_149872760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041806.1:g.404_420del, NG_041806.1:g.405_420del, NG_041806.1:g.406_420del, NG_041806.1:g.407_420del, NG_041806.1:g.408_420del, NG_041806.1:g.409_420del, NG_041806.1:g.410_420del, NG_041806.1:g.411_420del, NG_041806.1:g.412_420del, NG_041806.1:g.413_420del, NG_041806.1:g.414_420del, NG_041806.1:g.415_420del, NG_041806.1:g.416_420del, NG_041806.1:g.417_420del, NG_041806.1:g.418_420del, NG_041806.1:g.419_420del, NG_041806.1:g.420del, NG_041806.1:g.420dup, NG_041806.1:g.419_420dup, NG_041806.1:g.418_420dup, NG_041806.1:g.417_420dup, NG_041806.1:g.416_420dup, NG_041806.1:g.415_420dup, NG_041806.1:g.414_420dup, NG_041806.1:g.413_420dup, NG_041806.1:g.412_420dup, NG_041806.1:g.411_420dup, NG_041806.1:g.410_420dup, NG_041806.1:g.409_420dup, NG_041806.1:g.408_420dup, NG_041806.1:g.407_420dup, NG_041806.1:g.406_420dup, NG_041806.1:g.405_420dup, NG_041806.1:g.404_420dup, NG_041806.1:g.403_420dup, NG_041806.1:g.401_420dup, NG_041806.1:g.400_420dup, NG_041806.1:g.420_421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

            6.

            rs1491274086 has merged into rs141440098 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              5:150484551 (GRCh38)
              5:149864114 (GRCh37)
              Canonical SPDI:
              NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150484540:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              NDST1-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTT=0./0 (ALFA)
              -=0.4637/2322 (1000Genomes)
              HGVS:
              NC_000005.10:g.150484551_150484562del, NC_000005.10:g.150484552_150484562del, NC_000005.10:g.150484554_150484562del, NC_000005.10:g.150484555_150484562del, NC_000005.10:g.150484556_150484562del, NC_000005.10:g.150484557_150484562del, NC_000005.10:g.150484558_150484562del, NC_000005.10:g.150484559_150484562del, NC_000005.10:g.150484560_150484562del, NC_000005.10:g.150484561_150484562del, NC_000005.10:g.150484562del, NC_000005.10:g.150484562dup, NC_000005.10:g.150484561_150484562dup, NC_000005.10:g.150484560_150484562dup, NC_000005.10:g.150484559_150484562dup, NC_000005.10:g.150484558_150484562dup, NC_000005.10:g.150484557_150484562dup, NC_000005.9:g.149864114_149864125del, NC_000005.9:g.149864115_149864125del, NC_000005.9:g.149864117_149864125del, NC_000005.9:g.149864118_149864125del, NC_000005.9:g.149864119_149864125del, NC_000005.9:g.149864120_149864125del, NC_000005.9:g.149864121_149864125del, NC_000005.9:g.149864122_149864125del, NC_000005.9:g.149864123_149864125del, NC_000005.9:g.149864124_149864125del, NC_000005.9:g.149864125del, NC_000005.9:g.149864125dup, NC_000005.9:g.149864124_149864125dup, NC_000005.9:g.149864123_149864125dup, NC_000005.9:g.149864122_149864125dup, NC_000005.9:g.149864121_149864125dup, NC_000005.9:g.149864120_149864125dup

              7.

              rs1491201158 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                5:150493169 (GRCh38)
                5:149872732 (GRCh37)
                Canonical SPDI:
                NC_000005.10:150493169::G
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.00008/1 (ALFA)
                G=0.00017/4 (GnomAD)
                HGVS:

                8.

                rs1491189736 has merged into rs56170880 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                  Chromosome:
                  5:150516993 (GRCh38)
                  5:149896555 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:150516976:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                  Gene:
                  NDST1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GTGTGTGTGTGTGTGT=0./0 (ALFA)
                  -=0.3059/1179 (ALSPAC)
                  GTGTGTGTGTGTGT=0.5/20 (GENOME_DK)
                  HGVS:
                  NC_000005.10:g.150516977GT[8], NC_000005.10:g.150516977GT[10], NC_000005.10:g.150516977GT[11], NC_000005.10:g.150516977GT[12], NC_000005.10:g.150516977GT[13], NC_000005.10:g.150516977GT[14], NC_000005.10:g.150516977GT[15], NC_000005.10:g.150516977GT[16], NC_000005.10:g.150516977GT[17], NC_000005.10:g.150516977GT[18], NC_000005.10:g.150516977GT[19], NC_000005.10:g.150516977GT[20], NC_000005.10:g.150516977GT[22], NC_000005.10:g.150516977GT[23], NC_000005.10:g.150516977GT[24], NC_000005.10:g.150516977GT[25], NC_000005.10:g.150516977GT[26], NC_000005.10:g.150516977GT[27], NC_000005.10:g.150516977GT[28], NC_000005.10:g.150516977GT[29], NC_000005.9:g.149896539GT[8], NC_000005.9:g.149896539GT[10], NC_000005.9:g.149896539GT[11], NC_000005.9:g.149896539GT[12], NC_000005.9:g.149896539GT[13], NC_000005.9:g.149896539GT[14], NC_000005.9:g.149896539GT[15], NC_000005.9:g.149896539GT[16], NC_000005.9:g.149896539GT[17], NC_000005.9:g.149896539GT[18], NC_000005.9:g.149896539GT[19], NC_000005.9:g.149896539GT[20], NC_000005.9:g.149896539GT[22], NC_000005.9:g.149896539GT[23], NC_000005.9:g.149896539GT[24], NC_000005.9:g.149896539GT[25], NC_000005.9:g.149896539GT[26], NC_000005.9:g.149896539GT[27], NC_000005.9:g.149896539GT[28], NC_000005.9:g.149896539GT[29], NG_041806.1:g.24200GT[8], NG_041806.1:g.24200GT[10], NG_041806.1:g.24200GT[11], NG_041806.1:g.24200GT[12], NG_041806.1:g.24200GT[13], NG_041806.1:g.24200GT[14], NG_041806.1:g.24200GT[15], NG_041806.1:g.24200GT[16], NG_041806.1:g.24200GT[17], NG_041806.1:g.24200GT[18], NG_041806.1:g.24200GT[19], NG_041806.1:g.24200GT[20], NG_041806.1:g.24200GT[22], NG_041806.1:g.24200GT[23], NG_041806.1:g.24200GT[24], NG_041806.1:g.24200GT[25], NG_041806.1:g.24200GT[26], NG_041806.1:g.24200GT[27], NG_041806.1:g.24200GT[28], NG_041806.1:g.24200GT[29]

                  9.

                  rs1491046599 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AG>- [Show Flanks]
                    Chromosome:
                    5:150551410 (GRCh38)
                    5:149930972 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:150551407:AGAG:AG
                    Gene:
                    NDST1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AGAG=0./0 (ALFA)
                    -=0.000007/1 (GnomAD)
                    -=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1490962188 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      5:150547329 (GRCh38)
                      5:149926891 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:150547328:G:C
                      Gene:
                      NDST1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000015/4 (TOPMED)
                      HGVS:

                      11.

                      rs1490934110 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        5:150546261 (GRCh38)
                        5:149925823 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:150546260:G:A
                        Gene:
                        NDST1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000011/3 (TOPMED)
                        HGVS:

                        12.

                        rs1490926969 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          5:150513424 (GRCh38)
                          5:149892986 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:150513423:G:A
                          Gene:
                          NDST1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490888481 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            5:150549214 (GRCh38)
                            5:149928776 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:150549213:G:A
                            Gene:
                            NDST1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1490864394 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              5:150515765 (GRCh38)
                              5:149895327 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:150515764:T:C
                              Gene:
                              NDST1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1490832597 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                5:150554879 (GRCh38)
                                5:149934441 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:150554878:G:A
                                Gene:
                                NDST1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:

                                16.

                                rs1490717096 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  5:150498814 (GRCh38)
                                  5:149878376 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:150498813:C:G,NC_000005.10:150498813:C:T
                                  Gene:
                                  NDST1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490702384 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    5:150538171 (GRCh38)
                                    5:149917733 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:150538170:G:A
                                    Gene:
                                    NDST1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1490699474 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      5:150554053 (GRCh38)
                                      5:149933615 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:150554052:T:C,NC_000005.10:150554052:T:G
                                      Gene:
                                      NDST1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000011/3 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      C=0.000106/2 (TOMMO)
                                      HGVS:

                                      19.

                                      rs1490677227 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        T>- [Show Flanks]
                                        Chromosome:
                                        5:150539221 (GRCh38)
                                        5:149918783 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:150539220:T:
                                        Gene:
                                        NDST1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Clinical significance:
                                        likely-benign
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0.000071/1 (ALFA)
                                        -=0.000015/4 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490579535 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          5:150507724 (GRCh38)
                                          5:149887286 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:150507723:G:A
                                          Gene:
                                          NDST1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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