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Items: 1 to 20 of 17772

1.

rs1491549975 has merged into rs552744891 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAACAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    3:47199108 (GRCh38)
    3:47240598 (GRCh37)
    Canonical SPDI:
    NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47199095:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    KIF9-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000003.12:g.47199108_47199111del, NC_000003.12:g.47199109_47199111del, NC_000003.12:g.47199110_47199111del, NC_000003.12:g.47199111del, NC_000003.12:g.47199111dup, NC_000003.12:g.47199110_47199111dup, NC_000003.12:g.47199109_47199111dup, NC_000003.12:g.47199108_47199111dup, NC_000003.12:g.47199107_47199111dup, NC_000003.12:g.47199106_47199111dup, NC_000003.12:g.47199105_47199111dup, NC_000003.12:g.47199104_47199111dup, NC_000003.12:g.47199103_47199111dup, NC_000003.12:g.47199102_47199111dup, NC_000003.12:g.47199101_47199111dup, NC_000003.12:g.47199100_47199111dup, NC_000003.12:g.47199099_47199111dup, NC_000003.12:g.47199098_47199111dup, NC_000003.12:g.47199097_47199111dup, NC_000003.12:g.47199096_47199111dup, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199111_47199112insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47199096_47199111A[16]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.47240598_47240601del, NC_000003.11:g.47240599_47240601del, NC_000003.11:g.47240600_47240601del, NC_000003.11:g.47240601del, NC_000003.11:g.47240601dup, NC_000003.11:g.47240600_47240601dup, NC_000003.11:g.47240599_47240601dup, NC_000003.11:g.47240598_47240601dup, NC_000003.11:g.47240597_47240601dup, NC_000003.11:g.47240596_47240601dup, NC_000003.11:g.47240595_47240601dup, NC_000003.11:g.47240594_47240601dup, NC_000003.11:g.47240593_47240601dup, NC_000003.11:g.47240592_47240601dup, NC_000003.11:g.47240591_47240601dup, NC_000003.11:g.47240590_47240601dup, NC_000003.11:g.47240589_47240601dup, NC_000003.11:g.47240588_47240601dup, NC_000003.11:g.47240587_47240601dup, NC_000003.11:g.47240586_47240601dup, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240601_47240602insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47240586_47240601A[16]CAAAAAAAAAAAAAAAAAAAAAAAAA[1]
    2.

    rs1491537442 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->TATATATA [Show Flanks]
      Chromosome:
      3:47210309 (GRCh38)
      3:47251800 (GRCh37)
      Canonical SPDI:
      NC_000003.12:47210309::TATATATA
      Gene:
      KIF9-AS1 (Varview)
      Functional Consequence:
      intron_variant
      HGVS:
      3.

      rs1491535599 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->C
        Chromosome:
        no mapping
        Canonical SPDI:
        4.

        rs1491503927 has merged into rs5848825 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          3:47218858 (GRCh38)
          3:47260348 (GRCh37)
          Canonical SPDI:
          NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47218847:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          KIF9-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAA=0./0 (ALFA)
          A=0.3044/165 (NorthernSweden)
          A=0.3444/1725 (1000Genomes)
          HGVS:
          5.

          rs1491471856 has merged into rs370197587 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            3:47217000 (GRCh38)
            3:47258490 (GRCh37)
            Canonical SPDI:
            NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47216992:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            KIF9-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTT=0./0 (ALFA)
            -=0.025/1 (GENOME_DK)
            HGVS:
            NC_000003.12:g.47217000_47217008del, NC_000003.12:g.47217002_47217008del, NC_000003.12:g.47217003_47217008del, NC_000003.12:g.47217005_47217008del, NC_000003.12:g.47217006_47217008del, NC_000003.12:g.47217007_47217008del, NC_000003.12:g.47217008del, NC_000003.12:g.47217008dup, NC_000003.12:g.47217007_47217008dup, NC_000003.12:g.47217006_47217008dup, NC_000003.12:g.47217005_47217008dup, NC_000003.12:g.47217004_47217008dup, NC_000003.12:g.47217003_47217008dup, NC_000003.12:g.47217002_47217008dup, NC_000003.12:g.47217001_47217008dup, NC_000003.12:g.47217000_47217008dup, NC_000003.12:g.47216999_47217008dup, NC_000003.12:g.47216998_47217008dup, NC_000003.12:g.47216996_47217008dup, NC_000003.12:g.47216994_47217008dup, NC_000003.11:g.47258490_47258498del, NC_000003.11:g.47258492_47258498del, NC_000003.11:g.47258493_47258498del, NC_000003.11:g.47258495_47258498del, NC_000003.11:g.47258496_47258498del, NC_000003.11:g.47258497_47258498del, NC_000003.11:g.47258498del, NC_000003.11:g.47258498dup, NC_000003.11:g.47258497_47258498dup, NC_000003.11:g.47258496_47258498dup, NC_000003.11:g.47258495_47258498dup, NC_000003.11:g.47258494_47258498dup, NC_000003.11:g.47258493_47258498dup, NC_000003.11:g.47258492_47258498dup, NC_000003.11:g.47258491_47258498dup, NC_000003.11:g.47258490_47258498dup, NC_000003.11:g.47258489_47258498dup, NC_000003.11:g.47258488_47258498dup, NC_000003.11:g.47258486_47258498dup, NC_000003.11:g.47258484_47258498dup
            6.

            rs1491443124 has merged into rs57998021 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTT>-,TT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              3:47194887 (GRCh38)
              3:47236377 (GRCh37)
              Canonical SPDI:
              NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47194877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              KIF9-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTT=0./0 (ALFA)
              -=0.000023/6 (TOPMED)
              T=0.255791/1281 (1000Genomes)
              -=0.368421/14 (GENOME_DK)
              HGVS:
              NC_000003.12:g.47194887_47194896del, NC_000003.12:g.47194889_47194896del, NC_000003.12:g.47194893_47194896del, NC_000003.12:g.47194894_47194896del, NC_000003.12:g.47194895_47194896del, NC_000003.12:g.47194896del, NC_000003.12:g.47194896dup, NC_000003.12:g.47194895_47194896dup, NC_000003.12:g.47194894_47194896dup, NC_000003.12:g.47194893_47194896dup, NC_000003.12:g.47194892_47194896dup, NC_000003.12:g.47194891_47194896dup, NC_000003.12:g.47194889_47194896dup, NC_000003.12:g.47194888_47194896dup, NC_000003.12:g.47194886_47194896dup, NC_000003.11:g.47236377_47236386del, NC_000003.11:g.47236379_47236386del, NC_000003.11:g.47236383_47236386del, NC_000003.11:g.47236384_47236386del, NC_000003.11:g.47236385_47236386del, NC_000003.11:g.47236386del, NC_000003.11:g.47236386dup, NC_000003.11:g.47236385_47236386dup, NC_000003.11:g.47236384_47236386dup, NC_000003.11:g.47236383_47236386dup, NC_000003.11:g.47236382_47236386dup, NC_000003.11:g.47236381_47236386dup, NC_000003.11:g.47236379_47236386dup, NC_000003.11:g.47236378_47236386dup, NC_000003.11:g.47236376_47236386dup
              7.

              rs1491420326 has merged into rs71098461 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                3:47190089 (GRCh38)
                3:47231579 (GRCh37)
                Canonical SPDI:
                NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47190074:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                KIF9-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTTT=0./0 (ALFA)
                HGVS:
                NC_000003.12:g.47190089_47190106del, NC_000003.12:g.47190090_47190106del, NC_000003.12:g.47190091_47190106del, NC_000003.12:g.47190092_47190106del, NC_000003.12:g.47190093_47190106del, NC_000003.12:g.47190094_47190106del, NC_000003.12:g.47190095_47190106del, NC_000003.12:g.47190096_47190106del, NC_000003.12:g.47190097_47190106del, NC_000003.12:g.47190098_47190106del, NC_000003.12:g.47190099_47190106del, NC_000003.12:g.47190100_47190106del, NC_000003.12:g.47190101_47190106del, NC_000003.12:g.47190102_47190106del, NC_000003.12:g.47190103_47190106del, NC_000003.12:g.47190104_47190106del, NC_000003.12:g.47190105_47190106del, NC_000003.12:g.47190106del, NC_000003.12:g.47190106dup, NC_000003.12:g.47190105_47190106dup, NC_000003.12:g.47190104_47190106dup, NC_000003.12:g.47190102_47190106dup, NC_000003.12:g.47190101_47190106dup, NC_000003.12:g.47190098_47190106dup, NC_000003.12:g.47190097_47190106dup, NC_000003.12:g.47190096_47190106dup, NC_000003.12:g.47190095_47190106dup, NC_000003.12:g.47190094_47190106dup, NC_000003.12:g.47190090_47190106dup, NC_000003.12:g.47190078_47190106dup, NC_000003.11:g.47231579_47231596del, NC_000003.11:g.47231580_47231596del, NC_000003.11:g.47231581_47231596del, NC_000003.11:g.47231582_47231596del, NC_000003.11:g.47231583_47231596del, NC_000003.11:g.47231584_47231596del, NC_000003.11:g.47231585_47231596del, NC_000003.11:g.47231586_47231596del, NC_000003.11:g.47231587_47231596del, NC_000003.11:g.47231588_47231596del, NC_000003.11:g.47231589_47231596del, NC_000003.11:g.47231590_47231596del, NC_000003.11:g.47231591_47231596del, NC_000003.11:g.47231592_47231596del, NC_000003.11:g.47231593_47231596del, NC_000003.11:g.47231594_47231596del, NC_000003.11:g.47231595_47231596del, NC_000003.11:g.47231596del, NC_000003.11:g.47231596dup, NC_000003.11:g.47231595_47231596dup, NC_000003.11:g.47231594_47231596dup, NC_000003.11:g.47231592_47231596dup, NC_000003.11:g.47231591_47231596dup, NC_000003.11:g.47231588_47231596dup, NC_000003.11:g.47231587_47231596dup, NC_000003.11:g.47231586_47231596dup, NC_000003.11:g.47231585_47231596dup, NC_000003.11:g.47231584_47231596dup, NC_000003.11:g.47231580_47231596dup, NC_000003.11:g.47231568_47231596dup
                8.

                rs1491412236 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  3:47218847 (GRCh38)
                  3:47260337 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:47218846:CA:
                  Gene:
                  KIF9-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.0011/13 (ALFA)
                  HGVS:
                  9.

                  rs1491384882 [Homo sapiens]
                    Variant type:
                    SNV:
                    Alleles:
                    ->AAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAA
                    Chromosome:
                    no mapping
                    Canonical SPDI:
                    10.

                    rs1491343644 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATAA,ATATATATATA,ATATATATATATA,ATATATATATATAA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATAA [Show Flanks]
                      Chromosome:
                      3:47190075 (GRCh38)
                      3:47231566 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:47190075::A,NC_000003.12:47190075::ATA,NC_000003.12:47190075::ATATA,NC_000003.12:47190075::ATATATA,NC_000003.12:47190075::ATATATATA,NC_000003.12:47190075::ATATATATAA,NC_000003.12:47190075::ATATATATATA,NC_000003.12:47190075::ATATATATATATA,NC_000003.12:47190075::ATATATATATATAA,NC_000003.12:47190075::ATATATATATATATA,NC_000003.12:47190075::ATATATATATATATATA,NC_000003.12:47190075::ATATATATATATATATAA
                      Gene:
                      KIF9-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      ATA=0./0 (ALFA)
                      HGVS:
                      NC_000003.12:g.47190075_47190076insA, NC_000003.12:g.47190075_47190076insATA, NC_000003.12:g.47190075_47190076insATATA, NC_000003.12:g.47190075_47190076insATATATA, NC_000003.12:g.47190075_47190076insATATATATA, NC_000003.12:g.47190075_47190076insATATATATAA, NC_000003.12:g.47190075_47190076insATATATATATA, NC_000003.12:g.47190075_47190076insATATATATATATA, NC_000003.12:g.47190075_47190076insATATATATATATAA, NC_000003.12:g.47190075_47190076insATATATATATATATA, NC_000003.12:g.47190075_47190076insATATATATATATATATA, NC_000003.12:g.47190075_47190076insATATATATATATATATAA, NC_000003.11:g.47231565_47231566insA, NC_000003.11:g.47231565_47231566insATA, NC_000003.11:g.47231565_47231566insATATA, NC_000003.11:g.47231565_47231566insATATATA, NC_000003.11:g.47231565_47231566insATATATATA, NC_000003.11:g.47231565_47231566insATATATATAA, NC_000003.11:g.47231565_47231566insATATATATATA, NC_000003.11:g.47231565_47231566insATATATATATATA, NC_000003.11:g.47231565_47231566insATATATATATATAA, NC_000003.11:g.47231565_47231566insATATATATATATATA, NC_000003.11:g.47231565_47231566insATATATATATATATATA, NC_000003.11:g.47231565_47231566insATATATATATATATATAA
                      11.

                      rs1491319975 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->A,ATA,ATATA,ATATACACATATATATATATATA,ATATATA [Show Flanks]
                        Chromosome:
                        3:47241885 (GRCh38)
                        3:47283376 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:47241885::A,NC_000003.12:47241885::ATA,NC_000003.12:47241885::ATATA,NC_000003.12:47241885::ATATACACATATATATATATATA,NC_000003.12:47241885::ATATATA
                        Gene:
                        KIF9 (Varview), KIF9-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        ATA=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491318995 has merged into rs34505913 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
                          Chromosome:
                          3:47183204 (GRCh38)
                          3:47224694 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47183194:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
                          Gene:
                          KIF9-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAAA=0./0 (ALFA)
                          A=0.3524/1765 (1000Genomes)
                          HGVS:
                          NC_000003.12:g.47183204_47183216del, NC_000003.12:g.47183205_47183216del, NC_000003.12:g.47183206_47183216del, NC_000003.12:g.47183207_47183216del, NC_000003.12:g.47183208_47183216del, NC_000003.12:g.47183209_47183216del, NC_000003.12:g.47183210_47183216del, NC_000003.12:g.47183211_47183216del, NC_000003.12:g.47183212_47183216del, NC_000003.12:g.47183213_47183216del, NC_000003.12:g.47183214_47183216del, NC_000003.12:g.47183215_47183216del, NC_000003.12:g.47183216del, NC_000003.12:g.47183216dup, NC_000003.12:g.47183215_47183216dup, NC_000003.12:g.47183214_47183216dup, NC_000003.12:g.47183213_47183216dup, NC_000003.12:g.47183211_47183216dup, NC_000003.11:g.47224694_47224706del, NC_000003.11:g.47224695_47224706del, NC_000003.11:g.47224696_47224706del, NC_000003.11:g.47224697_47224706del, NC_000003.11:g.47224698_47224706del, NC_000003.11:g.47224699_47224706del, NC_000003.11:g.47224700_47224706del, NC_000003.11:g.47224701_47224706del, NC_000003.11:g.47224702_47224706del, NC_000003.11:g.47224703_47224706del, NC_000003.11:g.47224704_47224706del, NC_000003.11:g.47224705_47224706del, NC_000003.11:g.47224706del, NC_000003.11:g.47224706dup, NC_000003.11:g.47224705_47224706dup, NC_000003.11:g.47224704_47224706dup, NC_000003.11:g.47224703_47224706dup, NC_000003.11:g.47224701_47224706dup
                          13.

                          rs1491316735 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CT>- [Show Flanks]
                            Chromosome:
                            3:47241900 (GRCh38)
                            3:47283390 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:47241898:TCT:T
                            Gene:
                            KIF9 (Varview), KIF9-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            -=0.00149/25 (TOMMO)
                            HGVS:
                            14.

                            rs1491284135 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->C [Show Flanks]
                              Chromosome:
                              3:47181451 (GRCh38)
                              3:47222942 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:47181451::C
                              Gene:
                              KIF9-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.00004/1 (GnomAD)
                              HGVS:
                              15.

                              rs1491282475 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CA>- [Show Flanks]
                                Chromosome:
                                3:47210309 (GRCh38)
                                3:47251799 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:47210308:CA:
                                Gene:
                                KIF9-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0.00006/1 (ALFA)
                                HGVS:
                                16.

                                rs1491280982 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->CACG,CACT [Show Flanks]
                                  Chromosome:
                                  3:47241866 (GRCh38)
                                  3:47283357 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:47241866::CACG,NC_000003.12:47241866::CACT
                                  Gene:
                                  KIF9 (Varview), KIF9-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  CACT=0./0 (ALFA)
                                  CACG=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1491260673 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CA>- [Show Flanks]
                                    Chromosome:
                                    3:47177510 (GRCh38)
                                    3:47219000 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:47177507:CACA:CA
                                    Gene:
                                    KIF9-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    CACA=0.01189/141 (ALFA)
                                    -=0.00088/56 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1491258267 has merged into rs966425803 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                      Chromosome:
                                      3:47233373 (GRCh38)
                                      3:47274863 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47233361:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                      Gene:
                                      KIF9 (Varview), KIF9-AS1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAAAA=0./0 (ALFA)
                                      AAAAAA=0.00346/2 (NorthernSweden)
                                      HGVS:
                                      NC_000003.12:g.47233373_47233386del, NC_000003.12:g.47233375_47233386del, NC_000003.12:g.47233376_47233386del, NC_000003.12:g.47233377_47233386del, NC_000003.12:g.47233380_47233386del, NC_000003.12:g.47233381_47233386del, NC_000003.12:g.47233382_47233386del, NC_000003.12:g.47233383_47233386del, NC_000003.12:g.47233384_47233386del, NC_000003.12:g.47233385_47233386del, NC_000003.12:g.47233386del, NC_000003.12:g.47233386dup, NC_000003.12:g.47233385_47233386dup, NC_000003.12:g.47233384_47233386dup, NC_000003.12:g.47233383_47233386dup, NC_000003.12:g.47233381_47233386dup, NC_000003.12:g.47233373_47233386dup, NC_000003.11:g.47274863_47274876del, NC_000003.11:g.47274865_47274876del, NC_000003.11:g.47274866_47274876del, NC_000003.11:g.47274867_47274876del, NC_000003.11:g.47274870_47274876del, NC_000003.11:g.47274871_47274876del, NC_000003.11:g.47274872_47274876del, NC_000003.11:g.47274873_47274876del, NC_000003.11:g.47274874_47274876del, NC_000003.11:g.47274875_47274876del, NC_000003.11:g.47274876del, NC_000003.11:g.47274876dup, NC_000003.11:g.47274875_47274876dup, NC_000003.11:g.47274874_47274876dup, NC_000003.11:g.47274873_47274876dup, NC_000003.11:g.47274871_47274876dup, NC_000003.11:g.47274863_47274876dup
                                      19.

                                      rs1491239572 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        TA>- [Show Flanks]
                                        Chromosome:
                                        3:47201061 (GRCh38)
                                        3:47242551 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:47201060:TA:
                                        Gene:
                                        KIF9-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1491226530 has merged into rs1006154751 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GA>-,GAGAGAGA [Show Flanks]
                                          Chromosome:
                                          3:47210491 (GRCh38)
                                          3:47251981 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:47210485:AGAGAGA:AGAGA,NC_000003.12:47210485:AGAGAGA:AGAGAGAGAGAGA
                                          Gene:
                                          KIF9-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AGAGAGAGAGAGA=0./0 (ALFA)
                                          -=0.000053/14 (TOPMED)
                                          HGVS:

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