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Items: 1 to 20 of 1000

1.

rs1491561855 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->TTTTTTTTTTTTTTTTTTTTC
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491486141 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      10:113762386 (GRCh38)
      10:115522146 (GRCh37)
      Canonical SPDI:
      NC_000010.11:113762386:C:CC
      Gene:
      PLEKHS1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      CC=0./0 (ALFA)
      HGVS:
      3.

      rs1491389233 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->T
        Chromosome:
        no mapping
        Canonical SPDI:
        4.

        rs1491312591 has merged into rs11317740 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAAA>-,AA,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          10:113749666 (GRCh38)
          10:115509425 (GRCh37)
          Canonical SPDI:
          NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113749654:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000010.11:g.113749666_113749678del, NC_000010.11:g.113749668_113749678del, NC_000010.11:g.113749669_113749678del, NC_000010.11:g.113749673_113749678del, NC_000010.11:g.113749674_113749678del, NC_000010.11:g.113749675_113749678del, NC_000010.11:g.113749676_113749678del, NC_000010.11:g.113749677_113749678del, NC_000010.11:g.113749678del, NC_000010.11:g.113749678dup, NC_000010.11:g.113749677_113749678dup, NC_000010.11:g.113749676_113749678dup, NC_000010.11:g.113749675_113749678dup, NC_000010.11:g.113749674_113749678dup, NC_000010.11:g.113749673_113749678dup, NC_000010.11:g.113749669_113749678dup, NC_000010.11:g.113749668_113749678dup, NC_000010.11:g.113749667_113749678dup, NC_000010.11:g.113749666_113749678dup, NC_000010.11:g.113749665_113749678dup, NC_000010.11:g.113749664_113749678dup, NC_000010.11:g.113749663_113749678dup, NC_000010.10:g.115509425_115509437del, NC_000010.10:g.115509427_115509437del, NC_000010.10:g.115509428_115509437del, NC_000010.10:g.115509432_115509437del, NC_000010.10:g.115509433_115509437del, NC_000010.10:g.115509434_115509437del, NC_000010.10:g.115509435_115509437del, NC_000010.10:g.115509436_115509437del, NC_000010.10:g.115509437del, NC_000010.10:g.115509437dup, NC_000010.10:g.115509436_115509437dup, NC_000010.10:g.115509435_115509437dup, NC_000010.10:g.115509434_115509437dup, NC_000010.10:g.115509433_115509437dup, NC_000010.10:g.115509432_115509437dup, NC_000010.10:g.115509428_115509437dup, NC_000010.10:g.115509427_115509437dup, NC_000010.10:g.115509426_115509437dup, NC_000010.10:g.115509425_115509437dup, NC_000010.10:g.115509424_115509437dup, NC_000010.10:g.115509423_115509437dup, NC_000010.10:g.115509422_115509437dup
          5.

          rs1491271538 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            AT>-
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1491218807 has merged into rs925189131 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ATAT>-,AT,ATATAT [Show Flanks]
              Chromosome:
              10:113753801 (GRCh38)
              10:115513560 (GRCh37)
              Canonical SPDI:
              NC_000010.11:113753790:ATATATATATATAT:ATATATATAT,NC_000010.11:113753790:ATATATATATATAT:ATATATATATAT,NC_000010.11:113753790:ATATATATATATAT:ATATATATATATATAT
              Gene:
              PLEKHS1 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ATATATATATAT=0./0 (ALFA)
              AT=0.00096/16 (TOMMO)
              HGVS:
              7.

              rs1491190998 has merged into rs55821501 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                10:113778655 (GRCh38)
                10:115538414 (GRCh37)
                Canonical SPDI:
                NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                PLEKHS1 (Varview), MIR4483 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTT=0./0 (ALFA)
                HGVS:
                NC_000010.11:g.113778655_113778661del, NC_000010.11:g.113778657_113778661del, NC_000010.11:g.113778658_113778661del, NC_000010.11:g.113778659_113778661del, NC_000010.11:g.113778660_113778661del, NC_000010.11:g.113778661del, NC_000010.11:g.113778661dup, NC_000010.11:g.113778660_113778661dup, NC_000010.11:g.113778659_113778661dup, NC_000010.11:g.113778658_113778661dup, NC_000010.11:g.113778657_113778661dup, NC_000010.11:g.113778656_113778661dup, NC_000010.11:g.113778655_113778661dup, NC_000010.11:g.113778654_113778661dup, NC_000010.11:g.113778653_113778661dup, NC_000010.11:g.113778652_113778661dup, NC_000010.11:g.113778651_113778661dup, NC_000010.11:g.113778649_113778661dup, NC_000010.10:g.115538414_115538420del, NC_000010.10:g.115538416_115538420del, NC_000010.10:g.115538417_115538420del, NC_000010.10:g.115538418_115538420del, NC_000010.10:g.115538419_115538420del, NC_000010.10:g.115538420del, NC_000010.10:g.115538420dup, NC_000010.10:g.115538419_115538420dup, NC_000010.10:g.115538418_115538420dup, NC_000010.10:g.115538417_115538420dup, NC_000010.10:g.115538416_115538420dup, NC_000010.10:g.115538415_115538420dup, NC_000010.10:g.115538414_115538420dup, NC_000010.10:g.115538413_115538420dup, NC_000010.10:g.115538412_115538420dup, NC_000010.10:g.115538411_115538420dup, NC_000010.10:g.115538410_115538420dup, NC_000010.10:g.115538408_115538420dup
                8.

                rs1491177051 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  10:113749654 (GRCh38)
                  10:115509413 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:113749653:CA:
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00042/5 (ALFA)
                  HGVS:
                  9.

                  rs1491173034 has merged into rs566568556 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    10:113779581 (GRCh38)
                    10:115539340 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:113779569:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:113779569:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:113779569:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:113779569:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:113779569:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:113779569:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:113779569:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:113779569:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:113779569:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113779569:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113779569:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113779569:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113779569:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113779569:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    PLEKHS1 (Varview), MIR4483 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAAAA=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    A=0.06929/1161 (TOMMO)
                    A=0.127622/73 (NorthernSweden)
                    A=0.275/11 (GENOME_DK)
                    HGVS:
                    NC_000010.11:g.113779581_113779584del, NC_000010.11:g.113779582_113779584del, NC_000010.11:g.113779583_113779584del, NC_000010.11:g.113779584del, NC_000010.11:g.113779584dup, NC_000010.11:g.113779583_113779584dup, NC_000010.11:g.113779582_113779584dup, NC_000010.11:g.113779581_113779584dup, NC_000010.11:g.113779579_113779584dup, NC_000010.11:g.113779578_113779584dup, NC_000010.11:g.113779577_113779584dup, NC_000010.11:g.113779576_113779584dup, NC_000010.11:g.113779575_113779584dup, NC_000010.11:g.113779574_113779584dup, NC_000010.10:g.115539340_115539343del, NC_000010.10:g.115539341_115539343del, NC_000010.10:g.115539342_115539343del, NC_000010.10:g.115539343del, NC_000010.10:g.115539343dup, NC_000010.10:g.115539342_115539343dup, NC_000010.10:g.115539341_115539343dup, NC_000010.10:g.115539340_115539343dup, NC_000010.10:g.115539338_115539343dup, NC_000010.10:g.115539337_115539343dup, NC_000010.10:g.115539336_115539343dup, NC_000010.10:g.115539335_115539343dup, NC_000010.10:g.115539334_115539343dup, NC_000010.10:g.115539333_115539343dup
                    10.

                    rs1491151034 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->GAAAAAGAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      10:113749655 (GRCh38)
                      10:115509415 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:113749655:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAAAAAAA
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAAAAAAA=0.00017/2 (ALFA)
                      AAAAAAAAAAAAAAAGAAAAAG=0.02021/461 (GnomAD)
                      HGVS:
                      11.

                      rs1491126047 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        TC>- [Show Flanks]
                        Chromosome:
                        10:113762386 (GRCh38)
                        10:115522145 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:113762385:TC:
                        Gene:
                        PLEKHS1 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1490988702 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:113754367 (GRCh38)
                          10:115514126 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:113754366:C:T
                          Gene:
                          PLEKHS1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1490497093 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            10:113778707 (GRCh38)
                            10:115538466 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:113778706:A:G
                            Gene:
                            PLEKHS1 (Varview), MIR4483 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1490423046 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              10:113762329 (GRCh38)
                              10:115522088 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:113762328:A:T
                              Gene:
                              PLEKHS1 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.02386/283 (ALFA)
                              T=0.00085/24 (TOMMO)
                              T=0.00137/4 (KOREAN)
                              HGVS:
                              15.

                              rs1490396164 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                10:113761239 (GRCh38)
                                10:115520998 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:113761238:A:G
                                Gene:
                                PLEKHS1 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000023/6 (TOPMED)
                                G=0.000029/4 (GnomAD)
                                HGVS:
                                16.

                                rs1490394958 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CTTT>- [Show Flanks]
                                  Chromosome:
                                  10:113759773 (GRCh38)
                                  10:115519532 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:113759769:TTTCTTT:TTT
                                  Gene:
                                  PLEKHS1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTT=0./0 (ALFA)
                                  -=0.000019/5 (TOPMED)
                                  -=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490194485 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    10:113770410 (GRCh38)
                                    10:115530169 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:113770409:C:T
                                    Gene:
                                    PLEKHS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000035/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1490170786 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      10:113779528 (GRCh38)
                                      10:115539287 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:113779527:C:G,NC_000010.11:113779527:C:T
                                      Gene:
                                      PLEKHS1 (Varview), MIR4483 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490155020 has merged into rs55821501 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                        Chromosome:
                                        10:113778655 (GRCh38)
                                        10:115538414 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:113778643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                        Gene:
                                        PLEKHS1 (Varview), MIR4483 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTTTTTTTTTT=0./0 (ALFA)
                                        HGVS:
                                        NC_000010.11:g.113778655_113778661del, NC_000010.11:g.113778657_113778661del, NC_000010.11:g.113778658_113778661del, NC_000010.11:g.113778659_113778661del, NC_000010.11:g.113778660_113778661del, NC_000010.11:g.113778661del, NC_000010.11:g.113778661dup, NC_000010.11:g.113778660_113778661dup, NC_000010.11:g.113778659_113778661dup, NC_000010.11:g.113778658_113778661dup, NC_000010.11:g.113778657_113778661dup, NC_000010.11:g.113778656_113778661dup, NC_000010.11:g.113778655_113778661dup, NC_000010.11:g.113778654_113778661dup, NC_000010.11:g.113778653_113778661dup, NC_000010.11:g.113778652_113778661dup, NC_000010.11:g.113778651_113778661dup, NC_000010.11:g.113778649_113778661dup, NC_000010.10:g.115538414_115538420del, NC_000010.10:g.115538416_115538420del, NC_000010.10:g.115538417_115538420del, NC_000010.10:g.115538418_115538420del, NC_000010.10:g.115538419_115538420del, NC_000010.10:g.115538420del, NC_000010.10:g.115538420dup, NC_000010.10:g.115538419_115538420dup, NC_000010.10:g.115538418_115538420dup, NC_000010.10:g.115538417_115538420dup, NC_000010.10:g.115538416_115538420dup, NC_000010.10:g.115538415_115538420dup, NC_000010.10:g.115538414_115538420dup, NC_000010.10:g.115538413_115538420dup, NC_000010.10:g.115538412_115538420dup, NC_000010.10:g.115538411_115538420dup, NC_000010.10:g.115538410_115538420dup, NC_000010.10:g.115538408_115538420dup
                                        20.

                                        rs1490153556 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          10:113764150 (GRCh38)
                                          10:115523909 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:113764149:G:A,NC_000010.11:113764149:G:T
                                          Gene:
                                          PLEKHS1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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