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Items: 1 to 20 of 6292

1.

rs1491559122 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    1:179929950 (GRCh38)
    1:179899085 (GRCh37)
    Canonical SPDI:
    NC_000001.11:179929949:CA:
    Gene:
    LOC101928933 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491542762 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->A,AA,AAA,AAAA,AAAAA,TA [Show Flanks]
      Chromosome:
      1:179940951 (GRCh38)
      1:179910087 (GRCh37)
      Canonical SPDI:
      NC_000001.11:179940951:A:AA,NC_000001.11:179940951:A:AAA,NC_000001.11:179940951:A:AAAA,NC_000001.11:179940951:A:AAAAA,NC_000001.11:179940951:A:AAAAAA,NC_000001.11:179940951:A:ATA
      Gene:
      LOC101928933 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAA=0./0 (ALFA)
      A=0.00037/6 (TOMMO)
      A=0.00275/5 (Korea1K)
      HGVS:
      3.

      rs1491483230 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>G [Show Flanks]
        Chromosome:
        1:179933993 (GRCh38)
        1:179903128 (GRCh37)
        Canonical SPDI:
        NC_000001.11:179933992:TT:G
        Gene:
        LOC101928933 (Varview)
        Functional Consequence:
        intron_variant
        HGVS:
        4.

        rs1491471922 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          1:179933993 (GRCh38)
          1:179903129 (GRCh37)
          Canonical SPDI:
          NC_000001.11:179933993::G
          Gene:
          LOC101928933 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000084/1 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1491420194 has merged into rs71118423 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            1:179932498 (GRCh38)
            1:179901633 (GRCh37)
            Canonical SPDI:
            NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:179932487:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            LOC101928933 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTT=0./0 (ALFA)
            HGVS:
            NC_000001.11:g.179932498_179932505del, NC_000001.11:g.179932500_179932505del, NC_000001.11:g.179932501_179932505del, NC_000001.11:g.179932503_179932505del, NC_000001.11:g.179932504_179932505del, NC_000001.11:g.179932505del, NC_000001.11:g.179932505dup, NC_000001.11:g.179932504_179932505dup, NC_000001.11:g.179932503_179932505dup, NC_000001.11:g.179932502_179932505dup, NC_000001.11:g.179932501_179932505dup, NC_000001.11:g.179932499_179932505dup, NC_000001.11:g.179932498_179932505dup, NC_000001.11:g.179932497_179932505dup, NC_000001.11:g.179932496_179932505dup, NC_000001.11:g.179932495_179932505dup, NC_000001.11:g.179932494_179932505dup, NC_000001.11:g.179932493_179932505dup, NC_000001.10:g.179901633_179901640del, NC_000001.10:g.179901635_179901640del, NC_000001.10:g.179901636_179901640del, NC_000001.10:g.179901638_179901640del, NC_000001.10:g.179901639_179901640del, NC_000001.10:g.179901640del, NC_000001.10:g.179901640dup, NC_000001.10:g.179901639_179901640dup, NC_000001.10:g.179901638_179901640dup, NC_000001.10:g.179901637_179901640dup, NC_000001.10:g.179901636_179901640dup, NC_000001.10:g.179901634_179901640dup, NC_000001.10:g.179901633_179901640dup, NC_000001.10:g.179901632_179901640dup, NC_000001.10:g.179901631_179901640dup, NC_000001.10:g.179901630_179901640dup, NC_000001.10:g.179901629_179901640dup, NC_000001.10:g.179901628_179901640dup
            6.

            rs1491192625 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CACA>-,CA [Show Flanks]
              Chromosome:
              1:179940955 (GRCh38)
              1:179910090 (GRCh37)
              Canonical SPDI:
              NC_000001.11:179940950:CACACACA:CACA,NC_000001.11:179940950:CACACACA:CACACA
              Gene:
              LOC101928933 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CACACA=0./0 (ALFA)
              -=0.00003/1 (GnomAD)
              HGVS:
              7.

              rs1491157142 has merged into rs554471580 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                1:179929960 (GRCh38)
                1:179899095 (GRCh37)
                Canonical SPDI:
                NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                LOC101928933 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAA=0./0 (ALFA)
                HGVS:
                NC_000001.11:g.179929960_179929972del, NC_000001.11:g.179929961_179929972del, NC_000001.11:g.179929962_179929972del, NC_000001.11:g.179929963_179929972del, NC_000001.11:g.179929964_179929972del, NC_000001.11:g.179929965_179929972del, NC_000001.11:g.179929966_179929972del, NC_000001.11:g.179929967_179929972del, NC_000001.11:g.179929969_179929972del, NC_000001.11:g.179929970_179929972del, NC_000001.11:g.179929971_179929972del, NC_000001.11:g.179929972del, NC_000001.11:g.179929972dup, NC_000001.11:g.179929971_179929972dup, NC_000001.11:g.179929970_179929972dup, NC_000001.11:g.179929968_179929972dup, NC_000001.11:g.179929960_179929972dup, NC_000001.10:g.179899095_179899107del, NC_000001.10:g.179899096_179899107del, NC_000001.10:g.179899097_179899107del, NC_000001.10:g.179899098_179899107del, NC_000001.10:g.179899099_179899107del, NC_000001.10:g.179899100_179899107del, NC_000001.10:g.179899101_179899107del, NC_000001.10:g.179899102_179899107del, NC_000001.10:g.179899104_179899107del, NC_000001.10:g.179899105_179899107del, NC_000001.10:g.179899106_179899107del, NC_000001.10:g.179899107del, NC_000001.10:g.179899107dup, NC_000001.10:g.179899106_179899107dup, NC_000001.10:g.179899105_179899107dup, NC_000001.10:g.179899103_179899107dup, NC_000001.10:g.179899095_179899107dup
                8.

                rs1491023821 has merged into rs554471580 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  1:179929960 (GRCh38)
                  1:179899095 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:179929950:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  LOC101928933 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAA=0./0 (ALFA)
                  HGVS:
                  NC_000001.11:g.179929960_179929972del, NC_000001.11:g.179929961_179929972del, NC_000001.11:g.179929962_179929972del, NC_000001.11:g.179929963_179929972del, NC_000001.11:g.179929964_179929972del, NC_000001.11:g.179929965_179929972del, NC_000001.11:g.179929966_179929972del, NC_000001.11:g.179929967_179929972del, NC_000001.11:g.179929969_179929972del, NC_000001.11:g.179929970_179929972del, NC_000001.11:g.179929971_179929972del, NC_000001.11:g.179929972del, NC_000001.11:g.179929972dup, NC_000001.11:g.179929971_179929972dup, NC_000001.11:g.179929970_179929972dup, NC_000001.11:g.179929968_179929972dup, NC_000001.11:g.179929960_179929972dup, NC_000001.10:g.179899095_179899107del, NC_000001.10:g.179899096_179899107del, NC_000001.10:g.179899097_179899107del, NC_000001.10:g.179899098_179899107del, NC_000001.10:g.179899099_179899107del, NC_000001.10:g.179899100_179899107del, NC_000001.10:g.179899101_179899107del, NC_000001.10:g.179899102_179899107del, NC_000001.10:g.179899104_179899107del, NC_000001.10:g.179899105_179899107del, NC_000001.10:g.179899106_179899107del, NC_000001.10:g.179899107del, NC_000001.10:g.179899107dup, NC_000001.10:g.179899106_179899107dup, NC_000001.10:g.179899105_179899107dup, NC_000001.10:g.179899103_179899107dup, NC_000001.10:g.179899095_179899107dup
                  9.

                  rs1490763983 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    1:179942458 (GRCh38)
                    1:179911593 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:179942457:C:A
                    Gene:
                    LOC101928933 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490711785 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:179941506 (GRCh38)
                      1:179910641 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:179941505:A:G
                      Gene:
                      LOC101928933 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490661812 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->A [Show Flanks]
                        Chromosome:
                        1:179949653 (GRCh38)
                        1:179918789 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:179949653:AAAAAA:AAAAAAA
                        Gene:
                        LOC101928933 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAA=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1490479042 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ACCACACC>- [Show Flanks]
                          Chromosome:
                          1:179944578 (GRCh38)
                          1:179913713 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:179944573:CACCACCACACC:CACC
                          Gene:
                          LOC101928933 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          CACC=0./0 (ALFA)
                          -=0.000008/2 (TOPMED)
                          -=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1490409454 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            1:179932689 (GRCh38)
                            1:179901824 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:179932688:G:T
                            Gene:
                            LOC101928933 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1490386012 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:179950716 (GRCh38)
                              1:179919851 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:179950715:G:A
                              Gene:
                              LOC101928933 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1490269158 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                1:179942914 (GRCh38)
                                1:179912049 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:179942913:T:A
                                Gene:
                                LOC101928933 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000026/7 (TOPMED)
                                HGVS:
                                16.

                                rs1490209119 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  A>- [Show Flanks]
                                  Chromosome:
                                  1:179930909 (GRCh38)
                                  1:179900044 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:179930908:AAA:AA
                                  Gene:
                                  LOC101928933 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  HGVS:
                                  17.

                                  rs1490179020 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->G [Show Flanks]
                                    Chromosome:
                                    1:179925971 (GRCh38)
                                    1:179895107 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:179925971:G:GG
                                    Gene:
                                    LOC101928933 (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    GG=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1490153964 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:179925890 (GRCh38)
                                      1:179895025 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:179925889:G:A
                                      Gene:
                                      LOC101928933 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490138939 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:179946402 (GRCh38)
                                        1:179915537 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:179946401:C:T
                                        Gene:
                                        LOC101928933 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000023/6 (TOPMED)
                                        T=0.000029/4 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489924533 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:179944565 (GRCh38)
                                          1:179913700 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:179944564:A:G
                                          Gene:
                                          LOC101928933 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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