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Items: 1 to 20 of 19780

1.

rs1491577810 has merged into rs1408910483 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ACACACACAC>-,ACACAC,ACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC [Show Flanks]
    Chromosome:
    20:3991930 (GRCh38)
    20:3972577 (GRCh37)
    Canonical SPDI:
    NC_000020.11:3991927:ACACACACACAC:AC,NC_000020.11:3991927:ACACACACACAC:ACACACAC,NC_000020.11:3991927:ACACACACACAC:ACACACACAC,NC_000020.11:3991927:ACACACACACAC:ACACACACACACAC,NC_000020.11:3991927:ACACACACACAC:ACACACACACACACAC,NC_000020.11:3991927:ACACACACACAC:ACACACACACACACACAC
    Gene:
    RNF24 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AC=0./0 (ALFA)
    HGVS:
    2.

    rs1491570029 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GCACACACACAC [Show Flanks]
      Chromosome:
      20:3991928 (GRCh38)
      20:3972576 (GRCh37)
      Canonical SPDI:
      NC_000020.11:3991928:CACACACACACGCACACACACAC:CACACACACACGCACACACACACGCACACACACAC
      Gene:
      RNF24 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      CACACACACACGCACACACACACGCACACACACAC=0./0 (ALFA)
      CACACACACACG=0.000015/2 (GnomAD)
      HGVS:
      3.

      rs1491510085 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        20:3942174 (GRCh38)
        20:3922822 (GRCh37)
        Canonical SPDI:
        NC_000020.11:3942174::A
        Gene:
        RNF24 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.00052/33 (GnomAD)
        HGVS:
        4.

        rs1491508407 has merged into rs10599625 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          20:3991259 (GRCh38)
          20:3971906 (GRCh37)
          Canonical SPDI:
          NC_000020.11:3991247:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:3991247:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:3991247:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:3991247:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:3991247:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:3991247:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:3991247:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:3991247:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3991247:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3991247:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3991247:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3991247:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3991247:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3991247:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3991247:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          RNF24 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTT=0./0 (ALFA)
          TT=0.1889/946 (1000Genomes)
          TT=0.2368/9 (GENOME_DK)
          HGVS:
          NC_000020.11:g.3991259_3991269del, NC_000020.11:g.3991261_3991269del, NC_000020.11:g.3991264_3991269del, NC_000020.11:g.3991265_3991269del, NC_000020.11:g.3991266_3991269del, NC_000020.11:g.3991267_3991269del, NC_000020.11:g.3991268_3991269del, NC_000020.11:g.3991269del, NC_000020.11:g.3991269dup, NC_000020.11:g.3991268_3991269dup, NC_000020.11:g.3991267_3991269dup, NC_000020.11:g.3991266_3991269dup, NC_000020.11:g.3991265_3991269dup, NC_000020.11:g.3991264_3991269dup, NC_000020.11:g.3991269_3991270insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.3971906_3971916del, NC_000020.10:g.3971908_3971916del, NC_000020.10:g.3971911_3971916del, NC_000020.10:g.3971912_3971916del, NC_000020.10:g.3971913_3971916del, NC_000020.10:g.3971914_3971916del, NC_000020.10:g.3971915_3971916del, NC_000020.10:g.3971916del, NC_000020.10:g.3971916dup, NC_000020.10:g.3971915_3971916dup, NC_000020.10:g.3971914_3971916dup, NC_000020.10:g.3971913_3971916dup, NC_000020.10:g.3971912_3971916dup, NC_000020.10:g.3971911_3971916dup, NC_000020.10:g.3971916_3971917insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047439866.1:c.-1687_-1677del, XM_047439866.1:c.-1685_-1677del, XM_047439866.1:c.-1682_-1677del, XM_047439866.1:c.-1681_-1677del, XM_047439866.1:c.-1680_-1677del, XM_047439866.1:c.-1679_-1677del, XM_047439866.1:c.-1678_-1677del, XM_047439866.1:c.-1677del, XM_047439866.1:c.-1677dup, XM_047439866.1:c.-1678_-1677dup, XM_047439866.1:c.-1679_-1677dup, XM_047439866.1:c.-1680_-1677dup, XM_047439866.1:c.-1681_-1677dup, XM_047439866.1:c.-1682_-1677dup, XM_047439866.1:c.-1677_-1676insAAAAAAAAAAAAAAAAAAAAAAAAAAA
          5.

          rs1491503530 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            20:3983940 (GRCh38)
            20:3964587 (GRCh37)
            Canonical SPDI:
            NC_000020.11:3983939:CA:
            Gene:
            RNF24 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.03128/371 (ALFA)
            -=0.00427/123 (GnomAD)
            -=0.00453/75 (TOMMO)
            HGVS:
            6.

            rs1491503321 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->CCTCTCTCTCTCTCTCTCTC [Show Flanks]
              Chromosome:
              20:3982104 (GRCh38)
              20:3962752 (GRCh37)
              Canonical SPDI:
              NC_000020.11:3982104:CTCTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTC
              Gene:
              RNF24 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              HGVS:
              7.

              rs1491503146 has merged into rs574975352 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                20:3966142 (GRCh38)
                20:3946789 (GRCh37)
                Canonical SPDI:
                NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:3966133:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                RNF24 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAA=0./0 (ALFA)
                HGVS:
                NC_000020.11:g.3966142_3966159del, NC_000020.11:g.3966144_3966159del, NC_000020.11:g.3966145_3966159del, NC_000020.11:g.3966146_3966159del, NC_000020.11:g.3966147_3966159del, NC_000020.11:g.3966148_3966159del, NC_000020.11:g.3966149_3966159del, NC_000020.11:g.3966150_3966159del, NC_000020.11:g.3966151_3966159del, NC_000020.11:g.3966152_3966159del, NC_000020.11:g.3966153_3966159del, NC_000020.11:g.3966154_3966159del, NC_000020.11:g.3966155_3966159del, NC_000020.11:g.3966156_3966159del, NC_000020.11:g.3966157_3966159del, NC_000020.11:g.3966158_3966159del, NC_000020.11:g.3966159del, NC_000020.11:g.3966159dup, NC_000020.11:g.3966158_3966159dup, NC_000020.11:g.3966157_3966159dup, NC_000020.11:g.3966156_3966159dup, NC_000020.11:g.3966155_3966159dup, NC_000020.11:g.3966154_3966159dup, NC_000020.11:g.3966152_3966159dup, NC_000020.11:g.3966151_3966159dup, NC_000020.11:g.3966150_3966159dup, NC_000020.11:g.3966149_3966159dup, NC_000020.11:g.3966148_3966159dup, NC_000020.11:g.3966147_3966159dup, NC_000020.11:g.3966146_3966159dup, NC_000020.10:g.3946789_3946806del, NC_000020.10:g.3946791_3946806del, NC_000020.10:g.3946792_3946806del, NC_000020.10:g.3946793_3946806del, NC_000020.10:g.3946794_3946806del, NC_000020.10:g.3946795_3946806del, NC_000020.10:g.3946796_3946806del, NC_000020.10:g.3946797_3946806del, NC_000020.10:g.3946798_3946806del, NC_000020.10:g.3946799_3946806del, NC_000020.10:g.3946800_3946806del, NC_000020.10:g.3946801_3946806del, NC_000020.10:g.3946802_3946806del, NC_000020.10:g.3946803_3946806del, NC_000020.10:g.3946804_3946806del, NC_000020.10:g.3946805_3946806del, NC_000020.10:g.3946806del, NC_000020.10:g.3946806dup, NC_000020.10:g.3946805_3946806dup, NC_000020.10:g.3946804_3946806dup, NC_000020.10:g.3946803_3946806dup, NC_000020.10:g.3946802_3946806dup, NC_000020.10:g.3946801_3946806dup, NC_000020.10:g.3946799_3946806dup, NC_000020.10:g.3946798_3946806dup, NC_000020.10:g.3946797_3946806dup, NC_000020.10:g.3946796_3946806dup, NC_000020.10:g.3946795_3946806dup, NC_000020.10:g.3946794_3946806dup, NC_000020.10:g.3946793_3946806dup
                8.

                rs1491489838 has merged into rs570867195 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ATAT>-,AT,ATATAT [Show Flanks]
                  Chromosome:
                  20:4008499 (GRCh38)
                  20:3989146 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:4008492:ATATATATAT:ATATAT,NC_000020.11:4008492:ATATATATAT:ATATATAT,NC_000020.11:4008492:ATATATATAT:ATATATATATAT
                  Gene:
                  RNF24 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ATATATAT=0.00012/2 (ALFA)
                  -=0.00439/22 (1000Genomes)
                  HGVS:
                  9.

                  rs1491472230 has merged into rs35857615 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA [Show Flanks]
                    Chromosome:
                    20:3940427 (GRCh38)
                    20:3921074 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:3940416:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:3940416:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:3940416:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:3940416:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:3940416:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:3940416:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:3940416:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:3940416:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
                    Gene:
                    RNF24 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAAAAAAA=0./0 (ALFA)
                    AA=0.2871/1438 (1000Genomes)
                    HGVS:
                    10.

                    rs1491468543 has merged into rs35759811 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
                      Chromosome:
                      20:3942184 (GRCh38)
                      20:3922831 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:3942173:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:3942173:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:3942173:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:3942173:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:3942173:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
                      Gene:
                      RNF24 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTT=0./0 (ALFA)
                      T=0.2138/824 (ALSPAC)
                      T=0.22546/836 (TWINSUK)
                      T=0.275/11 (GENOME_DK)
                      T=0.33167/1661 (1000Genomes)
                      HGVS:
                      11.

                      rs1491465399 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        20:3998574 (GRCh38)
                        20:3979221 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:3998573:CA:
                        Gene:
                        RNF24 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491447733 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->AC,ACAC [Show Flanks]
                          Chromosome:
                          20:4014737 (GRCh38)
                          20:3995385 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:4014737:C:CAC,NC_000020.11:4014737:C:CACAC
                          Gene:
                          RNF24 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          CAC=0.00006/1 (ALFA)
                          HGVS:
                          13.

                          rs1491434699 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            AG>- [Show Flanks]
                            Chromosome:
                            20:3966469 (GRCh38)
                            20:3947116 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:3966468:AG:
                            Gene:
                            RNF24 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0.00008/1 (ALFA)
                            HGVS:
                            15.

                            rs1491405262 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              AT>- [Show Flanks]
                              Chromosome:
                              20:3943301 (GRCh38)
                              20:3923948 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:3943300:AT:
                              Gene:
                              RNF24 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0.000674/8 (ALFA)
                              -=0.001221/168 (GnomAD)
                              HGVS:
                              16.

                              rs1491395029 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TA>-,TATA [Show Flanks]
                                Chromosome:
                                20:4008330 (GRCh38)
                                20:3988977 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:4008321:TATATATATA:TATATATA,NC_000020.11:4008321:TATATATATA:TATATATATATA
                                Gene:
                                RNF24 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TATATATATATA=0./0 (ALFA)
                                -=0.00007/1 (TOMMO)
                                HGVS:
                                17.

                                rs1491391271 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  TT>- [Show Flanks]
                                  Chromosome:
                                  20:4008321 (GRCh38)
                                  20:3988968 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:4008320:TT:
                                  Gene:
                                  RNF24 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  HGVS:
                                  18.

                                  rs1491388530 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    CA>- [Show Flanks]
                                    Chromosome:
                                    20:3966133 (GRCh38)
                                    20:3946780 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:3966132:CA:
                                    Gene:
                                    RNF24 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0.0016/19 (ALFA)
                                    -=0.00026/7 (TOMMO)
                                    HGVS:
                                    19.

                                    rs1491374298 has merged into rs11470036 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
                                      Chromosome:
                                      20:3933074 (GRCh38)
                                      20:3913721 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3933063:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                      Gene:
                                      RNF24 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTTTTTTT=0./0 (ALFA)
                                      TTTT=0.2708/1356 (1000Genomes)
                                      HGVS:
                                      NC_000020.11:g.3933074_3933087del, NC_000020.11:g.3933076_3933087del, NC_000020.11:g.3933077_3933087del, NC_000020.11:g.3933078_3933087del, NC_000020.11:g.3933079_3933087del, NC_000020.11:g.3933080_3933087del, NC_000020.11:g.3933081_3933087del, NC_000020.11:g.3933082_3933087del, NC_000020.11:g.3933083_3933087del, NC_000020.11:g.3933084_3933087del, NC_000020.11:g.3933085_3933087del, NC_000020.11:g.3933086_3933087del, NC_000020.11:g.3933087del, NC_000020.11:g.3933087dup, NC_000020.11:g.3933086_3933087dup, NC_000020.11:g.3933085_3933087dup, NC_000020.11:g.3933083_3933087dup, NC_000020.10:g.3913721_3913734del, NC_000020.10:g.3913723_3913734del, NC_000020.10:g.3913724_3913734del, NC_000020.10:g.3913725_3913734del, NC_000020.10:g.3913726_3913734del, NC_000020.10:g.3913727_3913734del, NC_000020.10:g.3913728_3913734del, NC_000020.10:g.3913729_3913734del, NC_000020.10:g.3913730_3913734del, NC_000020.10:g.3913731_3913734del, NC_000020.10:g.3913732_3913734del, NC_000020.10:g.3913733_3913734del, NC_000020.10:g.3913734del, NC_000020.10:g.3913734dup, NC_000020.10:g.3913733_3913734dup, NC_000020.10:g.3913732_3913734dup, NC_000020.10:g.3913730_3913734dup, NM_007219.5:c.*986_*999del, NM_007219.5:c.*988_*999del, NM_007219.5:c.*989_*999del, NM_007219.5:c.*990_*999del, NM_007219.5:c.*991_*999del, NM_007219.5:c.*992_*999del, NM_007219.5:c.*993_*999del, NM_007219.5:c.*994_*999del, NM_007219.5:c.*995_*999del, NM_007219.5:c.*996_*999del, NM_007219.5:c.*997_*999del, NM_007219.5:c.*998_*999del, NM_007219.5:c.*999del, NM_007219.5:c.*999dup, NM_007219.5:c.*998_*999dup, NM_007219.5:c.*997_*999dup, NM_007219.5:c.*995_*999dup, NM_007219.4:c.*986_*999del, NM_007219.4:c.*988_*999del, NM_007219.4:c.*989_*999del, NM_007219.4:c.*990_*999del, NM_007219.4:c.*991_*999del, NM_007219.4:c.*992_*999del, NM_007219.4:c.*993_*999del, NM_007219.4:c.*994_*999del, NM_007219.4:c.*995_*999del, NM_007219.4:c.*996_*999del, NM_007219.4:c.*997_*999del, NM_007219.4:c.*998_*999del, NM_007219.4:c.*999del, NM_007219.4:c.*999dup, NM_007219.4:c.*998_*999dup, NM_007219.4:c.*997_*999dup, NM_007219.4:c.*995_*999dup, NM_007219.3:c.*986_*999del, NM_007219.3:c.*988_*999del, NM_007219.3:c.*989_*999del, NM_007219.3:c.*990_*999del, NM_007219.3:c.*991_*999del, NM_007219.3:c.*992_*999del, NM_007219.3:c.*993_*999del, NM_007219.3:c.*994_*999del, NM_007219.3:c.*995_*999del, NM_007219.3:c.*996_*999del, NM_007219.3:c.*997_*999del, NM_007219.3:c.*998_*999del, NM_007219.3:c.*999del, NM_007219.3:c.*999dup, NM_007219.3:c.*998_*999dup, NM_007219.3:c.*997_*999dup, NM_007219.3:c.*995_*999dup, XM_011529146.3:c.*986_*999del, XM_011529146.3:c.*988_*999del, XM_011529146.3:c.*989_*999del, XM_011529146.3:c.*990_*999del, XM_011529146.3:c.*991_*999del, XM_011529146.3:c.*992_*999del, XM_011529146.3:c.*993_*999del, XM_011529146.3:c.*994_*999del, XM_011529146.3:c.*995_*999del, XM_011529146.3:c.*996_*999del, XM_011529146.3:c.*997_*999del, XM_011529146.3:c.*998_*999del, XM_011529146.3:c.*999del, XM_011529146.3:c.*999dup, XM_011529146.3:c.*998_*999dup, XM_011529146.3:c.*997_*999dup, XM_011529146.3:c.*995_*999dup, XM_011529146.2:c.*986_*999del, XM_011529146.2:c.*988_*999del, XM_011529146.2:c.*989_*999del, XM_011529146.2:c.*990_*999del, XM_011529146.2:c.*991_*999del, XM_011529146.2:c.*992_*999del, XM_011529146.2:c.*993_*999del, XM_011529146.2:c.*994_*999del, XM_011529146.2:c.*995_*999del, XM_011529146.2:c.*996_*999del, XM_011529146.2:c.*997_*999del, XM_011529146.2:c.*998_*999del, XM_011529146.2:c.*999del, XM_011529146.2:c.*999dup, XM_011529146.2:c.*998_*999dup, XM_011529146.2:c.*997_*999dup, XM_011529146.2:c.*995_*999dup, XM_011529146.1:c.*986_*999del, XM_011529146.1:c.*988_*999del, XM_011529146.1:c.*989_*999del, XM_011529146.1:c.*990_*999del, XM_011529146.1:c.*991_*999del, XM_011529146.1:c.*992_*999del, XM_011529146.1:c.*993_*999del, XM_011529146.1:c.*994_*999del, XM_011529146.1:c.*995_*999del, XM_011529146.1:c.*996_*999del, XM_011529146.1:c.*997_*999del, XM_011529146.1:c.*998_*999del, XM_011529146.1:c.*999del, XM_011529146.1:c.*999dup, XM_011529146.1:c.*998_*999dup, XM_011529146.1:c.*997_*999dup, XM_011529146.1:c.*995_*999dup, NM_001134338.3:c.*986_*999del, NM_001134338.3:c.*988_*999del, NM_001134338.3:c.*989_*999del, NM_001134338.3:c.*990_*999del, NM_001134338.3:c.*991_*999del, NM_001134338.3:c.*992_*999del, NM_001134338.3:c.*993_*999del, NM_001134338.3:c.*994_*999del, NM_001134338.3:c.*995_*999del, NM_001134338.3:c.*996_*999del, NM_001134338.3:c.*997_*999del, NM_001134338.3:c.*998_*999del, NM_001134338.3:c.*999del, NM_001134338.3:c.*999dup, NM_001134338.3:c.*998_*999dup, NM_001134338.3:c.*997_*999dup, NM_001134338.3:c.*995_*999dup, NM_001134338.2:c.*986_*999del, NM_001134338.2:c.*988_*999del, NM_001134338.2:c.*989_*999del, NM_001134338.2:c.*990_*999del, NM_001134338.2:c.*991_*999del, NM_001134338.2:c.*992_*999del, NM_001134338.2:c.*993_*999del, NM_001134338.2:c.*994_*999del, NM_001134338.2:c.*995_*999del, NM_001134338.2:c.*996_*999del, NM_001134338.2:c.*997_*999del, NM_001134338.2:c.*998_*999del, NM_001134338.2:c.*999del, NM_001134338.2:c.*999dup, NM_001134338.2:c.*998_*999dup, NM_001134338.2:c.*997_*999dup, NM_001134338.2:c.*995_*999dup, NM_001134338.1:c.*986_*999del, NM_001134338.1:c.*988_*999del, NM_001134338.1:c.*989_*999del, NM_001134338.1:c.*990_*999del, NM_001134338.1:c.*991_*999del, NM_001134338.1:c.*992_*999del, NM_001134338.1:c.*993_*999del, NM_001134338.1:c.*994_*999del, NM_001134338.1:c.*995_*999del, NM_001134338.1:c.*996_*999del, NM_001134338.1:c.*997_*999del, NM_001134338.1:c.*998_*999del, NM_001134338.1:c.*999del, NM_001134338.1:c.*999dup, NM_001134338.1:c.*998_*999dup, NM_001134338.1:c.*997_*999dup, NM_001134338.1:c.*995_*999dup, NM_001134337.3:c.*986_*999del, NM_001134337.3:c.*988_*999del, NM_001134337.3:c.*989_*999del, NM_001134337.3:c.*990_*999del, NM_001134337.3:c.*991_*999del, NM_001134337.3:c.*992_*999del, NM_001134337.3:c.*993_*999del, NM_001134337.3:c.*994_*999del, NM_001134337.3:c.*995_*999del, NM_001134337.3:c.*996_*999del, NM_001134337.3:c.*997_*999del, NM_001134337.3:c.*998_*999del, NM_001134337.3:c.*999del, NM_001134337.3:c.*999dup, NM_001134337.3:c.*998_*999dup, NM_001134337.3:c.*997_*999dup, NM_001134337.3:c.*995_*999dup, NM_001134337.2:c.*986_*999del, NM_001134337.2:c.*988_*999del, NM_001134337.2:c.*989_*999del, NM_001134337.2:c.*990_*999del, NM_001134337.2:c.*991_*999del, NM_001134337.2:c.*992_*999del, NM_001134337.2:c.*993_*999del, NM_001134337.2:c.*994_*999del, NM_001134337.2:c.*995_*999del, NM_001134337.2:c.*996_*999del, NM_001134337.2:c.*997_*999del, NM_001134337.2:c.*998_*999del, NM_001134337.2:c.*999del, NM_001134337.2:c.*999dup, NM_001134337.2:c.*998_*999dup, NM_001134337.2:c.*997_*999dup, NM_001134337.2:c.*995_*999dup, NM_001134337.1:c.*986_*999del, NM_001134337.1:c.*988_*999del, NM_001134337.1:c.*989_*999del, NM_001134337.1:c.*990_*999del, NM_001134337.1:c.*991_*999del, NM_001134337.1:c.*992_*999del, NM_001134337.1:c.*993_*999del, NM_001134337.1:c.*994_*999del, NM_001134337.1:c.*995_*999del, NM_001134337.1:c.*996_*999del, NM_001134337.1:c.*997_*999del, NM_001134337.1:c.*998_*999del, NM_001134337.1:c.*999del, NM_001134337.1:c.*999dup, NM_001134337.1:c.*998_*999dup, NM_001134337.1:c.*997_*999dup, NM_001134337.1:c.*995_*999dup, XM_017027620.2:c.*986_*999del, XM_017027620.2:c.*988_*999del, XM_017027620.2:c.*989_*999del, XM_017027620.2:c.*990_*999del, XM_017027620.2:c.*991_*999del, XM_017027620.2:c.*992_*999del, XM_017027620.2:c.*993_*999del, XM_017027620.2:c.*994_*999del, XM_017027620.2:c.*995_*999del, XM_017027620.2:c.*996_*999del, XM_017027620.2:c.*997_*999del, XM_017027620.2:c.*998_*999del, XM_017027620.2:c.*999del, XM_017027620.2:c.*999dup, XM_017027620.2:c.*998_*999dup, XM_017027620.2:c.*997_*999dup, XM_017027620.2:c.*995_*999dup, XM_017027620.1:c.*986_*999del, XM_017027620.1:c.*988_*999del, XM_017027620.1:c.*989_*999del, XM_017027620.1:c.*990_*999del, XM_017027620.1:c.*991_*999del, XM_017027620.1:c.*992_*999del, XM_017027620.1:c.*993_*999del, XM_017027620.1:c.*994_*999del, XM_017027620.1:c.*995_*999del, XM_017027620.1:c.*996_*999del, XM_017027620.1:c.*997_*999del, XM_017027620.1:c.*998_*999del, XM_017027620.1:c.*999del, XM_017027620.1:c.*999dup, XM_017027620.1:c.*998_*999dup, XM_017027620.1:c.*997_*999dup, XM_017027620.1:c.*995_*999dup, XM_017027621.2:c.*986_*999del, XM_017027621.2:c.*988_*999del, XM_017027621.2:c.*989_*999del, XM_017027621.2:c.*990_*999del, XM_017027621.2:c.*991_*999del, XM_017027621.2:c.*992_*999del, XM_017027621.2:c.*993_*999del, XM_017027621.2:c.*994_*999del, XM_017027621.2:c.*995_*999del, XM_017027621.2:c.*996_*999del, XM_017027621.2:c.*997_*999del, XM_017027621.2:c.*998_*999del, XM_017027621.2:c.*999del, XM_017027621.2:c.*999dup, XM_017027621.2:c.*998_*999dup, XM_017027621.2:c.*997_*999dup, XM_017027621.2:c.*995_*999dup, XM_017027621.1:c.*986_*999del, XM_017027621.1:c.*988_*999del, XM_017027621.1:c.*989_*999del, XM_017027621.1:c.*990_*999del, XM_017027621.1:c.*991_*999del, XM_017027621.1:c.*992_*999del, XM_017027621.1:c.*993_*999del, XM_017027621.1:c.*994_*999del, XM_017027621.1:c.*995_*999del, XM_017027621.1:c.*996_*999del, XM_017027621.1:c.*997_*999del, XM_017027621.1:c.*998_*999del, XM_017027621.1:c.*999del, XM_017027621.1:c.*999dup, XM_017027621.1:c.*998_*999dup, XM_017027621.1:c.*997_*999dup, XM_017027621.1:c.*995_*999dup, NM_001321749.2:c.*986_*999del, NM_001321749.2:c.*988_*999del, NM_001321749.2:c.*989_*999del, NM_001321749.2:c.*990_*999del, NM_001321749.2:c.*991_*999del, NM_001321749.2:c.*992_*999del, NM_001321749.2:c.*993_*999del, NM_001321749.2:c.*994_*999del, NM_001321749.2:c.*995_*999del, NM_001321749.2:c.*996_*999del, NM_001321749.2:c.*997_*999del, NM_001321749.2:c.*998_*999del, NM_001321749.2:c.*999del, NM_001321749.2:c.*999dup, NM_001321749.2:c.*998_*999dup, NM_001321749.2:c.*997_*999dup, NM_001321749.2:c.*995_*999dup, NM_001321749.1:c.*986_*999del, NM_001321749.1:c.*988_*999del, NM_001321749.1:c.*989_*999del, NM_001321749.1:c.*990_*999del, NM_001321749.1:c.*991_*999del, NM_001321749.1:c.*992_*999del, NM_001321749.1:c.*993_*999del, NM_001321749.1:c.*994_*999del, NM_001321749.1:c.*995_*999del, NM_001321749.1:c.*996_*999del, NM_001321749.1:c.*997_*999del, NM_001321749.1:c.*998_*999del, NM_001321749.1:c.*999del, NM_001321749.1:c.*999dup, NM_001321749.1:c.*998_*999dup, NM_001321749.1:c.*997_*999dup, NM_001321749.1:c.*995_*999dup, XM_047439866.1:c.*986_*999del, XM_047439866.1:c.*988_*999del, XM_047439866.1:c.*989_*999del, XM_047439866.1:c.*990_*999del, XM_047439866.1:c.*991_*999del, XM_047439866.1:c.*992_*999del, XM_047439866.1:c.*993_*999del, XM_047439866.1:c.*994_*999del, XM_047439866.1:c.*995_*999del, XM_047439866.1:c.*996_*999del, XM_047439866.1:c.*997_*999del, XM_047439866.1:c.*998_*999del, XM_047439866.1:c.*999del, XM_047439866.1:c.*999dup, XM_047439866.1:c.*998_*999dup, XM_047439866.1:c.*997_*999dup, XM_047439866.1:c.*995_*999dup, XM_047439865.1:c.*986_*999del, XM_047439865.1:c.*988_*999del, XM_047439865.1:c.*989_*999del, XM_047439865.1:c.*990_*999del, XM_047439865.1:c.*991_*999del, XM_047439865.1:c.*992_*999del, XM_047439865.1:c.*993_*999del, XM_047439865.1:c.*994_*999del, XM_047439865.1:c.*995_*999del, XM_047439865.1:c.*996_*999del, XM_047439865.1:c.*997_*999del, XM_047439865.1:c.*998_*999del, XM_047439865.1:c.*999del, XM_047439865.1:c.*999dup, XM_047439865.1:c.*998_*999dup, XM_047439865.1:c.*997_*999dup, XM_047439865.1:c.*995_*999dup

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