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Items: 1 to 20 of 22719

1.

rs1491586345 has merged into rs33933983 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CCCCCCC>-,C,CC,CCC,CCCC,CCCCC,CCCCCC,CCCCCCCC,CCCCCCCCC [Show Flanks]
    Chromosome:
    20:13280397 (GRCh38)
    20:13261044 (GRCh37)
    Canonical SPDI:
    NC_000020.11:13280391:CCCCCCCCCCCC:CCCCC,NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCC,NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCC,NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCC,NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCC,NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCC,NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCCCCC
    Gene:
    TASP1 (Varview), ISM1 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CCCCC=0./0 (ALFA)
    -=0.0833/321 (ALSPAC)
    C=0.375/15 (GENOME_DK)
    -=0.4163/2085 (1000Genomes)
    ...more
    HGVS:
    2.

    rs1491548701 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      20:13229151 (GRCh38)
      20:13209799 (GRCh37)
      Canonical SPDI:
      NC_000020.11:13229151::C
      Gene:
      TASP1 (Varview), ISM1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency
      MAF:
      C=0.00006/6 (GnomAD)
      HGVS:
      3.

      rs1491538880 has merged into rs1209268068 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AA>-,A [Show Flanks]
        Chromosome:
        20:13223170 (GRCh38)
        20:13203817 (GRCh37)
        Canonical SPDI:
        NC_000020.11:13223167:AAAA:AA,NC_000020.11:13223167:AAAA:AAA
        Gene:
        TASP1 (Varview), ISM1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        AAA=0./0 (ALFA)
        -=0.000008/1 (GnomAD)
        HGVS:
        4.

        rs1491538028 has merged into rs1162270732 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTT>-,T,TT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          20:13224852 (GRCh38)
          20:13205499 (GRCh37)
          Canonical SPDI:
          NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:13224841:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          TASP1 (Varview), ISM1 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTT=0./0 (ALFA)
          -=0.000011/3 (TOPMED)
          HGVS:
          NC_000020.11:g.13224852_13224863del, NC_000020.11:g.13224853_13224863del, NC_000020.11:g.13224854_13224863del, NC_000020.11:g.13224858_13224863del, NC_000020.11:g.13224860_13224863del, NC_000020.11:g.13224861_13224863del, NC_000020.11:g.13224862_13224863del, NC_000020.11:g.13224863del, NC_000020.11:g.13224863dup, NC_000020.11:g.13224862_13224863dup, NC_000020.11:g.13224861_13224863dup, NC_000020.11:g.13224860_13224863dup, NC_000020.11:g.13224859_13224863dup, NC_000020.11:g.13224858_13224863dup, NC_000020.11:g.13224857_13224863dup, NC_000020.11:g.13224856_13224863dup, NC_000020.11:g.13224855_13224863dup, NC_000020.11:g.13224854_13224863dup, NC_000020.11:g.13224853_13224863dup, NC_000020.11:g.13224851_13224863dup, NC_000020.11:g.13224846_13224863dup, NC_000020.10:g.13205499_13205510del, NC_000020.10:g.13205500_13205510del, NC_000020.10:g.13205501_13205510del, NC_000020.10:g.13205505_13205510del, NC_000020.10:g.13205507_13205510del, NC_000020.10:g.13205508_13205510del, NC_000020.10:g.13205509_13205510del, NC_000020.10:g.13205510del, NC_000020.10:g.13205510dup, NC_000020.10:g.13205509_13205510dup, NC_000020.10:g.13205508_13205510dup, NC_000020.10:g.13205507_13205510dup, NC_000020.10:g.13205506_13205510dup, NC_000020.10:g.13205505_13205510dup, NC_000020.10:g.13205504_13205510dup, NC_000020.10:g.13205503_13205510dup, NC_000020.10:g.13205502_13205510dup, NC_000020.10:g.13205501_13205510dup, NC_000020.10:g.13205500_13205510dup, NC_000020.10:g.13205498_13205510dup, NC_000020.10:g.13205493_13205510dup
          ...more
          5.

          rs1491527112 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->A,AA,AAA [Show Flanks]
            Chromosome:
            20:13306562 (GRCh38)
            20:13287210 (GRCh37)
            Canonical SPDI:
            NC_000020.11:13306562:A:AA,NC_000020.11:13306562:A:AAA,NC_000020.11:13306562:A:AAAA
            Gene:
            TASP1 (Varview), ISM1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAA=0./0 (ALFA)
            HGVS:
            6.

            rs1491521338 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              ->AAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAA
              Chromosome:
              no mapping
              Canonical SPDI:
              7.

              rs1491512426 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                20:13256395 (GRCh38)
                20:13237042 (GRCh37)
                Canonical SPDI:
                NC_000020.11:13256394:CA:
                Gene:
                TASP1 (Varview), ISM1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.00017/2 (ALFA)
                HGVS:
                8.

                rs1491477380 has merged into rs397865981 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  20:13293217 (GRCh38)
                  20:13273864 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:13293207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
                  Gene:
                  TASP1 (Varview), ISM1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAA=0./0 (ALFA)
                  -=0.000008/2 (TOPMED)
                  A=0.35/14 (GENOME_DK)
                  ...more
                  HGVS:
                  9.

                  rs1491455215 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->A,AA,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
                    Chromosome:
                    20:13244386 (GRCh38)
                    20:13225034 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:13244386::A,NC_000020.11:13244386::AA,NC_000020.11:13244386::AAA,NC_000020.11:13244386::AAAA,NC_000020.11:13244386::AAAAA,NC_000020.11:13244386::AAAAAA
                    Gene:
                    TASP1 (Varview), ISM1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AA=0./0 (ALFA)
                    AAAA=0.0006/10 (TOMMO)
                    AAAA=0.00165/3 (Korea1K)
                    ...more
                    HGVS:
                    10.

                    rs1491436999 has merged into rs66485516 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      20:13306575 (GRCh38)
                      20:13287222 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13306564:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      TASP1 (Varview), ISM1 (Varview)
                      Functional Consequence:
                      intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAA=0./0 (ALFA)
                      -=0./0 (GENOME_DK)
                      HGVS:
                      NC_000020.11:g.13306575_13306586del, NC_000020.11:g.13306576_13306586del, NC_000020.11:g.13306577_13306586del, NC_000020.11:g.13306578_13306586del, NC_000020.11:g.13306579_13306586del, NC_000020.11:g.13306580_13306586del, NC_000020.11:g.13306581_13306586del, NC_000020.11:g.13306582_13306586del, NC_000020.11:g.13306583_13306586del, NC_000020.11:g.13306584_13306586del, NC_000020.11:g.13306585_13306586del, NC_000020.11:g.13306586del, NC_000020.11:g.13306586dup, NC_000020.11:g.13306585_13306586dup, NC_000020.11:g.13306584_13306586dup, NC_000020.11:g.13306583_13306586dup, NC_000020.11:g.13306582_13306586dup, NC_000020.11:g.13306581_13306586dup, NC_000020.11:g.13306580_13306586dup, NC_000020.11:g.13306579_13306586dup, NC_000020.11:g.13306578_13306586dup, NC_000020.11:g.13306577_13306586dup, NC_000020.11:g.13306576_13306586dup, NC_000020.11:g.13306575_13306586dup, NC_000020.11:g.13306574_13306586dup, NC_000020.11:g.13306573_13306586dup, NC_000020.11:g.13306572_13306586dup, NC_000020.11:g.13306571_13306586dup, NC_000020.11:g.13306570_13306586dup, NC_000020.11:g.13306569_13306586dup, NC_000020.11:g.13306568_13306586dup, NC_000020.11:g.13306567_13306586dup, NC_000020.11:g.13306566_13306586dup, NC_000020.11:g.13306565_13306586dup, NC_000020.11:g.13306586_13306587insAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.13306586_13306587insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.13306586_13306587insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.13306586_13306587insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.13306586_13306587insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.13306586_13306587insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.13306586_13306587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.13306586_13306587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.13306586_13306587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.13306586_13306587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.13306586_13306587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.13306586_13306587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.13306565_13306586A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[30]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[26]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[25]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[25]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[25]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[25]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[24]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[24]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[23]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[23]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[23]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.13306565_13306586A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287222_13287233del, NC_000020.10:g.13287223_13287233del, NC_000020.10:g.13287224_13287233del, NC_000020.10:g.13287225_13287233del, NC_000020.10:g.13287226_13287233del, NC_000020.10:g.13287227_13287233del, NC_000020.10:g.13287228_13287233del, NC_000020.10:g.13287229_13287233del, NC_000020.10:g.13287230_13287233del, NC_000020.10:g.13287231_13287233del, NC_000020.10:g.13287232_13287233del, NC_000020.10:g.13287233del, NC_000020.10:g.13287233dup, NC_000020.10:g.13287232_13287233dup, NC_000020.10:g.13287231_13287233dup, NC_000020.10:g.13287230_13287233dup, NC_000020.10:g.13287229_13287233dup, NC_000020.10:g.13287228_13287233dup, NC_000020.10:g.13287227_13287233dup, NC_000020.10:g.13287226_13287233dup, NC_000020.10:g.13287225_13287233dup, NC_000020.10:g.13287224_13287233dup, NC_000020.10:g.13287223_13287233dup, NC_000020.10:g.13287222_13287233dup, NC_000020.10:g.13287221_13287233dup, NC_000020.10:g.13287220_13287233dup, NC_000020.10:g.13287219_13287233dup, NC_000020.10:g.13287218_13287233dup, NC_000020.10:g.13287217_13287233dup, NC_000020.10:g.13287216_13287233dup, NC_000020.10:g.13287215_13287233dup, NC_000020.10:g.13287214_13287233dup, NC_000020.10:g.13287213_13287233dup, NC_000020.10:g.13287212_13287233dup, NC_000020.10:g.13287233_13287234insAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.13287233_13287234insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.13287233_13287234insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.13287233_13287234insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.13287233_13287234insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.13287233_13287234insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.13287233_13287234insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.13287233_13287234insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.13287233_13287234insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.13287233_13287234insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.13287233_13287234insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.13287233_13287234insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.13287212_13287233A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[30]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[26]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[25]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[25]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[25]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[25]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[24]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[24]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[23]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[23]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[23]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.13287212_13287233A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047440269.1:c.*9456_*9467del, XM_047440269.1:c.*9457_*9467del, XM_047440269.1:c.*9458_*9467del, XM_047440269.1:c.*9459_*9467del, XM_047440269.1:c.*9460_*9467del, XM_047440269.1:c.*9461_*9467del, XM_047440269.1:c.*9462_*9467del, XM_047440269.1:c.*9463_*9467del, XM_047440269.1:c.*9464_*9467del, XM_047440269.1:c.*9465_*9467del, XM_047440269.1:c.*9466_*9467del, XM_047440269.1:c.*9467del, XM_047440269.1:c.*9467dup, XM_047440269.1:c.*9466_*9467dup, XM_047440269.1:c.*9465_*9467dup, XM_047440269.1:c.*9464_*9467dup, XM_047440269.1:c.*9463_*9467dup, XM_047440269.1:c.*9462_*9467dup, XM_047440269.1:c.*9461_*9467dup, XM_047440269.1:c.*9460_*9467dup, XM_047440269.1:c.*9459_*9467dup, XM_047440269.1:c.*9458_*9467dup, XM_047440269.1:c.*9457_*9467dup, XM_047440269.1:c.*9456_*9467dup, XM_047440269.1:c.*9455_*9467dup, XM_047440269.1:c.*9454_*9467dup, XM_047440269.1:c.*9453_*9467dup, XM_047440269.1:c.*9452_*9467dup, XM_047440269.1:c.*9451_*9467dup, XM_047440269.1:c.*9450_*9467dup, XM_047440269.1:c.*9449_*9467dup, XM_047440269.1:c.*9448_*9467dup, XM_047440269.1:c.*9447_*9467dup, XM_047440269.1:c.*9446_*9467dup, XM_047440269.1:c.*9467_*9468insTTTTTTTTTTTTTTTTTTTTTTT, XM_047440269.1:c.*9467_*9468insTTTTTTTTTTTTTTTTTTTTTTTT, XM_047440269.1:c.*9467_*9468insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047440269.1:c.*9467_*9468insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047440269.1:c.*9467_*9468insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047440269.1:c.*9467_*9468insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047440269.1:c.*9467_*9468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047440269.1:c.*9467_*9468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047440269.1:c.*9467_*9468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047440269.1:c.*9467_*9468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047440269.1:c.*9467_*9468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047440269.1:c.*9467_*9468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047440269.1:c.*9446_*9467T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[22]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[23]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[35]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[22]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[23]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[24]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[25]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[28]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[22]CTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[23]CTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[26]CTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[33]CTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[34]CTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[23]CTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[24]CTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[25]CTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[26]CTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[30]CTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047440269.1:c.*9446_*9467T[39]CTTTTTTTTTTTTTTTTTTTTTTT[1]
                      ...more
                      11.

                      rs1491393761 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        CC>-
                        Chromosome:
                        no mapping
                        Canonical SPDI:
                        12.

                        rs1491286153 [Homo sapiens]
                          Variant type:
                          SNV:
                          Alleles:
                          GC>-
                          Chromosome:
                          no mapping
                          Canonical SPDI:
                          13.

                          rs1491267875 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->T [Show Flanks]
                            Chromosome:
                            20:13223168 (GRCh38)
                            20:13203816 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:13223168::T
                            Gene:
                            TASP1 (Varview), ISM1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.000506/6 (ALFA)
                            T=0.000611/72 (GnomAD)
                            HGVS:
                            14.

                            rs1491259595 has merged into rs34371292 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
                              Chromosome:
                              20:13254074 (GRCh38)
                              20:13234721 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:13254058:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:13254058:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:13254058:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:13254058:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:13254058:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:13254058:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:13254058:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13254058:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13254058:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13254058:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13254058:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13254058:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                              Gene:
                              TASP1 (Varview), ISM1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAAAAAAAAA=0./0 (ALFA)
                              -=0.3158/12 (GENOME_DK)
                              HGVS:
                              15.

                              rs1491251177 has merged into rs35224672 [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,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                                Chromosome:
                                20:13247534 (GRCh38)
                                20:13228181 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13247517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                                Gene:
                                TASP1 (Varview), ISM1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GTGTGTGTGTGTGTGT=0./0 (ALFA)
                                -=0.1427/529 (TWINSUK)
                                -=0.1443/556 (ALSPAC)
                                ...more
                                HGVS:
                                NC_000020.11:g.13247518GT[8], NC_000020.11:g.13247518GT[10], NC_000020.11:g.13247518GT[11], NC_000020.11:g.13247518GT[12], NC_000020.11:g.13247518GT[13], NC_000020.11:g.13247518GT[14], NC_000020.11:g.13247518GT[15], NC_000020.11:g.13247518GT[16], NC_000020.11:g.13247518GT[17], NC_000020.11:g.13247518GT[18], NC_000020.11:g.13247518GT[19], NC_000020.11:g.13247518GT[20], NC_000020.11:g.13247518GT[22], NC_000020.11:g.13247518GT[23], NC_000020.11:g.13247518GT[24], NC_000020.11:g.13247518GT[25], NC_000020.11:g.13247518GT[26], NC_000020.11:g.13247518GT[27], NC_000020.11:g.13247518GT[28], NC_000020.11:g.13247518GT[30], NC_000020.10:g.13228165GT[8], NC_000020.10:g.13228165GT[10], NC_000020.10:g.13228165GT[11], NC_000020.10:g.13228165GT[12], NC_000020.10:g.13228165GT[13], NC_000020.10:g.13228165GT[14], NC_000020.10:g.13228165GT[15], NC_000020.10:g.13228165GT[16], NC_000020.10:g.13228165GT[17], NC_000020.10:g.13228165GT[18], NC_000020.10:g.13228165GT[19], NC_000020.10:g.13228165GT[20], NC_000020.10:g.13228165GT[22], NC_000020.10:g.13228165GT[23], NC_000020.10:g.13228165GT[24], NC_000020.10:g.13228165GT[25], NC_000020.10:g.13228165GT[26], NC_000020.10:g.13228165GT[27], NC_000020.10:g.13228165GT[28], NC_000020.10:g.13228165GT[30], NG_060719.1:g.277GT[8], NG_060719.1:g.277GT[10], NG_060719.1:g.277GT[11], NG_060719.1:g.277GT[12], NG_060719.1:g.277GT[13], NG_060719.1:g.277GT[14], NG_060719.1:g.277GT[15], NG_060719.1:g.277GT[16], NG_060719.1:g.277GT[17], NG_060719.1:g.277GT[18], NG_060719.1:g.277GT[19], NG_060719.1:g.277GT[20], NG_060719.1:g.277GT[22], NG_060719.1:g.277GT[23], NG_060719.1:g.277GT[24], NG_060719.1:g.277GT[25], NG_060719.1:g.277GT[26], NG_060719.1:g.277GT[27], NG_060719.1:g.277GT[28], NG_060719.1:g.277GT[30], XR_007067463.1:n.19993AC[8], XR_007067463.1:n.19993AC[10], XR_007067463.1:n.19993AC[11], XR_007067463.1:n.19993AC[12], XR_007067463.1:n.19993AC[13], XR_007067463.1:n.19993AC[14], XR_007067463.1:n.19993AC[15], XR_007067463.1:n.19993AC[16], XR_007067463.1:n.19993AC[17], XR_007067463.1:n.19993AC[18], XR_007067463.1:n.19993AC[19], XR_007067463.1:n.19993AC[20], XR_007067463.1:n.19993AC[22], XR_007067463.1:n.19993AC[23], XR_007067463.1:n.19993AC[24], XR_007067463.1:n.19993AC[25], XR_007067463.1:n.19993AC[26], XR_007067463.1:n.19993AC[27], XR_007067463.1:n.19993AC[28], XR_007067463.1:n.19993AC[30]
                                ...more
                                16.

                                rs1491227969 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TA>- [Show Flanks]
                                  Chromosome:
                                  20:13321253 (GRCh38)
                                  20:13301900 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:13321251:ATA:A
                                  Gene:
                                  TASP1 (Varview), ISM1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  -=0.00005/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1491163032 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    GA>- [Show Flanks]
                                    Chromosome:
                                    20:13306562 (GRCh38)
                                    20:13287209 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:13306561:GA:
                                    Gene:
                                    TASP1 (Varview), ISM1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.00107/30 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1491130607 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      AC>- [Show Flanks]
                                      Chromosome:
                                      20:13280391 (GRCh38)
                                      20:13261038 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:13280390:AC:
                                      Gene:
                                      TASP1 (Varview), ISM1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1491121288 has merged into rs3041816 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC>-,TC,TCTC,TCTCTC,TCTCTCTC,TCTCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTC,TCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC [Show Flanks]
                                        Chromosome:
                                        20:13268365 (GRCh38)
                                        20:13249012 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000020.11:13268347:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
                                        Gene:
                                        TASP1 (Varview), ISM1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CTCTCTCTCTCTCTCTCTC=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1491068001 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CT>- [Show Flanks]
                                          Chromosome:
                                          20:13227977 (GRCh38)
                                          20:13208624 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:13227975:TCT:T
                                          Gene:
                                          TASP1 (Varview), ISM1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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