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Items: 1 to 20 of 10505

1.

rs1491568189 has merged into rs398014386 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    10:88722900 (GRCh38)
    10:90482657 (GRCh37)
    Canonical SPDI:
    NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88722889:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    LIPK (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTT=0./0 (ALFA)
    -=0.1/4 (GENOME_DK)
    TTTTTTTTTT=0.4471/2239 (1000Genomes)
    HGVS:
    NC_000010.11:g.88722900_88722901del, NC_000010.11:g.88722901del, NC_000010.11:g.88722901dup, NC_000010.11:g.88722900_88722901dup, NC_000010.11:g.88722899_88722901dup, NC_000010.11:g.88722898_88722901dup, NC_000010.11:g.88722897_88722901dup, NC_000010.11:g.88722896_88722901dup, NC_000010.11:g.88722895_88722901dup, NC_000010.11:g.88722894_88722901dup, NC_000010.11:g.88722893_88722901dup, NC_000010.11:g.88722892_88722901dup, NC_000010.11:g.88722891_88722901dup, NC_000010.11:g.88722890_88722901dup, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88722901_88722902insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90482657_90482658del, NC_000010.10:g.90482658del, NC_000010.10:g.90482658dup, NC_000010.10:g.90482657_90482658dup, NC_000010.10:g.90482656_90482658dup, NC_000010.10:g.90482655_90482658dup, NC_000010.10:g.90482654_90482658dup, NC_000010.10:g.90482653_90482658dup, NC_000010.10:g.90482652_90482658dup, NC_000010.10:g.90482651_90482658dup, NC_000010.10:g.90482650_90482658dup, NC_000010.10:g.90482649_90482658dup, NC_000010.10:g.90482648_90482658dup, NC_000010.10:g.90482647_90482658dup, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90482658_90482659insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

    2.

    rs1491546174 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->CTT
      Chromosome:
      no mapping
      Canonical SPDI:

      3.

      rs1491464694 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CTTTTTTTT [Show Flanks]
        Chromosome:
        10:88722890 (GRCh38)
        10:90482648 (GRCh37)
        Canonical SPDI:
        NC_000010.11:88722890:TTTTTTTT:TTTTTTTTCTTTTTTTT
        Gene:
        LIPK (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        TTTTTTTTCTTTTTTTT=0./0 (ALFA)
        HGVS:

        4.

        rs1491348982 has merged into rs3068334 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CACACACA>-,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA [Show Flanks]
          Chromosome:
          10:88720726 (GRCh38)
          10:90480483 (GRCh37)
          Canonical SPDI:
          NC_000010.11:88720715:CACACACACACACACACA:CACACACACA,NC_000010.11:88720715:CACACACACACACACACA:CACACACACACACA,NC_000010.11:88720715:CACACACACACACACACA:CACACACACACACACA,NC_000010.11:88720715:CACACACACACACACACA:CACACACACACACACACACA,NC_000010.11:88720715:CACACACACACACACACA:CACACACACACACACACACACA,NC_000010.11:88720715:CACACACACACACACACA:CACACACACACACACACACACACA,NC_000010.11:88720715:CACACACACACACACACA:CACACACACACACACACACACACACA,NC_000010.11:88720715:CACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000010.11:88720715:CACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000010.11:88720715:CACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000010.11:88720715:CACACACACACACACACA:CACACACACACACACACACACACACACACACACA
          Gene:
          LIPK (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CACACACACACACACA=0./0 (ALFA)
          -=0.1577/790 (1000Genomes)
          HGVS:

          5.

          rs1491284149 has merged into rs11374780 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            10:88716363 (GRCh38)
            10:90476120 (GRCh37)
            Canonical SPDI:
            NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:88716356:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            LIPK (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTT=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.491214/2460 (1000Genomes)
            HGVS:
            NC_000010.11:g.88716363_88716375del, NC_000010.11:g.88716367_88716375del, NC_000010.11:g.88716368_88716375del, NC_000010.11:g.88716371_88716375del, NC_000010.11:g.88716372_88716375del, NC_000010.11:g.88716373_88716375del, NC_000010.11:g.88716374_88716375del, NC_000010.11:g.88716375del, NC_000010.11:g.88716375dup, NC_000010.11:g.88716374_88716375dup, NC_000010.11:g.88716373_88716375dup, NC_000010.11:g.88716372_88716375dup, NC_000010.11:g.88716371_88716375dup, NC_000010.11:g.88716370_88716375dup, NC_000010.11:g.88716369_88716375dup, NC_000010.11:g.88716368_88716375dup, NC_000010.11:g.88716366_88716375dup, NC_000010.11:g.88716365_88716375dup, NC_000010.11:g.88716375_88716376insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88716375_88716376insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88716375_88716376insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88716375_88716376insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.88716375_88716376insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90476120_90476132del, NC_000010.10:g.90476124_90476132del, NC_000010.10:g.90476125_90476132del, NC_000010.10:g.90476128_90476132del, NC_000010.10:g.90476129_90476132del, NC_000010.10:g.90476130_90476132del, NC_000010.10:g.90476131_90476132del, NC_000010.10:g.90476132del, NC_000010.10:g.90476132dup, NC_000010.10:g.90476131_90476132dup, NC_000010.10:g.90476130_90476132dup, NC_000010.10:g.90476129_90476132dup, NC_000010.10:g.90476128_90476132dup, NC_000010.10:g.90476127_90476132dup, NC_000010.10:g.90476126_90476132dup, NC_000010.10:g.90476125_90476132dup, NC_000010.10:g.90476123_90476132dup, NC_000010.10:g.90476122_90476132dup, NC_000010.10:g.90476132_90476133insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90476132_90476133insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90476132_90476133insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90476132_90476133insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.90476132_90476133insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

            6.

            rs1491169828 has merged into rs11300051 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CC>-,C,CCC,CCCC [Show Flanks]
              Chromosome:
              10:88740816 (GRCh38)
              10:90500573 (GRCh37)
              Canonical SPDI:
              NC_000010.11:88740808:CCCCCCCCC:CCCCCCC,NC_000010.11:88740808:CCCCCCCCC:CCCCCCCC,NC_000010.11:88740808:CCCCCCCCC:CCCCCCCCCC,NC_000010.11:88740808:CCCCCCCCC:CCCCCCCCCCC
              Gene:
              LIPK (Varview)
              Functional Consequence:
              intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CCCCCCCCCCC=0.0001/1 (ALFA)
              -=0.2/8 (GENOME_DK)
              -=0.26/1002 (ALSPAC)
              -=0.2824/1047 (TWINSUK)
              -=0.2849/1183 (Estonian)
              -=0.3138/1531 (1000Genomes)
              HGVS:

              7.

              rs1491164534 has merged into rs71022537 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGTGGGGGGGGGGGGGGGG [Show Flanks]
                Chromosome:
                10:88729262 (GRCh38)
                10:90489019 (GRCh37)
                Canonical SPDI:
                NC_000010.11:88729252:GGGGGGGGGGGG:GGGGGGGGG,NC_000010.11:88729252:GGGGGGGGGGGG:GGGGGGGGGG,NC_000010.11:88729252:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000010.11:88729252:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000010.11:88729252:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000010.11:88729252:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000010.11:88729252:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000010.11:88729252:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000010.11:88729252:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000010.11:88729252:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000010.11:88729252:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000010.11:88729252:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000010.11:88729252:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG
                Gene:
                LIPK (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GGGGGGGGGGG=0./0 (ALFA)
                -=0.3/12 (GENOME_DK)
                HGVS:
                NC_000010.11:g.88729262_88729264del, NC_000010.11:g.88729263_88729264del, NC_000010.11:g.88729264del, NC_000010.11:g.88729264dup, NC_000010.11:g.88729263_88729264dup, NC_000010.11:g.88729262_88729264dup, NC_000010.11:g.88729261_88729264dup, NC_000010.11:g.88729260_88729264dup, NC_000010.11:g.88729259_88729264dup, NC_000010.11:g.88729258_88729264dup, NC_000010.11:g.88729257_88729264dup, NC_000010.11:g.88729256_88729264dup, NC_000010.11:g.88729253_88729264G[17]TGGGGGGGGGGGGGGGG[1], NC_000010.10:g.90489019_90489021del, NC_000010.10:g.90489020_90489021del, NC_000010.10:g.90489021del, NC_000010.10:g.90489021dup, NC_000010.10:g.90489020_90489021dup, NC_000010.10:g.90489019_90489021dup, NC_000010.10:g.90489018_90489021dup, NC_000010.10:g.90489017_90489021dup, NC_000010.10:g.90489016_90489021dup, NC_000010.10:g.90489015_90489021dup, NC_000010.10:g.90489014_90489021dup, NC_000010.10:g.90489013_90489021dup, NC_000010.10:g.90489010_90489021G[17]TGGGGGGGGGGGGGGGG[1]

                8.

                rs1491043126 has merged into rs111612883 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
                  Chromosome:
                  10:88717891 (GRCh38)
                  10:90477648 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:88717881:TTTTTTTTTTT:TTTTTTTTT,NC_000010.11:88717881:TTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:88717881:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:88717881:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:88717881:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:88717881:TTTTTTTTTTT:TTTTTTTTTTTTTTT
                  Gene:
                  LIPK (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTTTT=0./0 (ALFA)
                  -=0.04153/154 (TWINSUK)
                  -=0.04229/163 (ALSPAC)
                  T=0.35917/139 (1000Genomes)
                  HGVS:

                  9.

                  rs1491021914 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->TA [Show Flanks]
                    Chromosome:
                    10:88721131 (GRCh38)
                    10:90480889 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:88721131::TA
                    Gene:
                    LIPK (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    TA=0./0 (ALFA)
                    TA=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1490997558 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->T [Show Flanks]
                      Chromosome:
                      10:88709304 (GRCh38)
                      10:90469062 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:88709304:TTT:TTTT
                      Gene:
                      LIPK (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TTTT=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1490912037 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        10:88750228 (GRCh38)
                        10:90509985 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:88750227:T:C
                        Gene:
                        LIPK (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1490792639 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          10:88717766 (GRCh38)
                          10:90477523 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:88717765:C:G
                          Gene:
                          LIPK (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490777230 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            10:88717879 (GRCh38)
                            10:90477636 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:88717878:A:T
                            Gene:
                            LIPK (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000011/3 (TOPMED)
                            T=0.000015/2 (GnomAD)
                            HGVS:

                            14.

                            rs1490611033 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              10:88741714 (GRCh38)
                              10:90501471 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:88741713:G:T
                              Gene:
                              LIPK (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1490559011 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                10:88727131 (GRCh38)
                                10:90486888 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:88727130:C:T
                                Gene:
                                LIPK (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000038/10 (TOPMED)
                                HGVS:

                                16.

                                rs1490532024 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  10:88726041 (GRCh38)
                                  10:90485798 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:88726040:C:T
                                  Gene:
                                  LIPK (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490516302 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    10:88709913 (GRCh38)
                                    10:90469670 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:88709912:G:A,NC_000010.11:88709912:G:T
                                    Gene:
                                    LIPK (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:

                                    18.

                                    rs1490500446 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      10:88708689 (GRCh38)
                                      10:90468446 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:88708688:C:A,NC_000010.11:88708688:C:T
                                      Gene:
                                      LIPK (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      T=0.00006/1 (TOMMO)
                                      HGVS:

                                      19.

                                      rs1490468177 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        10:88750775 (GRCh38)
                                        10:90510532 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:88750774:C:G
                                        Gene:
                                        LIPK (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490423578 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          10:88741587 (GRCh38)
                                          10:90501344 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:88741586:G:A
                                          Gene:
                                          LIPK (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0./0 (GnomAD)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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