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Items: 1 to 20 of 8864

1.

rs1491444659 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->TG [Show Flanks]
    Chromosome:
    11:435773 (GRCh38)
    11:435774 (GRCh37)
    Canonical SPDI:
    NC_000011.10:435773::TG
    Gene:
    ANO9 (Varview), LOC105376506 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TG=0.00008/1 (ALFA)
    HGVS:
    2.

    rs1491387991 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->TTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1491197625 has merged into rs10707508 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTTTT>-,T,TT,TTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        11:436073 (GRCh38)
        11:436073 (GRCh37)
        Canonical SPDI:
        NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        ANO9 (Varview), LOC105376506 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000011.10:g.436073_436084del, NC_000011.10:g.436074_436084del, NC_000011.10:g.436075_436084del, NC_000011.10:g.436076_436084del, NC_000011.10:g.436079_436084del, NC_000011.10:g.436081_436084del, NC_000011.10:g.436082_436084del, NC_000011.10:g.436083_436084del, NC_000011.10:g.436084del, NC_000011.10:g.436084dup, NC_000011.10:g.436083_436084dup, NC_000011.10:g.436082_436084dup, NC_000011.10:g.436064_436084T[24]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.436081_436084dup, NC_000011.10:g.436064_436084T[25]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.436080_436084dup, NC_000011.10:g.436064_436084T[26]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.436079_436084dup, NC_000011.10:g.436074_436084dup, NC_000011.10:g.436064_436084T[35]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.436064_436084dup, NC_000011.10:g.436084_436085insTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.436064_436084T[44]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.436084_436085insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.436073_436084del, NC_000011.9:g.436074_436084del, NC_000011.9:g.436075_436084del, NC_000011.9:g.436076_436084del, NC_000011.9:g.436079_436084del, NC_000011.9:g.436081_436084del, NC_000011.9:g.436082_436084del, NC_000011.9:g.436083_436084del, NC_000011.9:g.436084del, NC_000011.9:g.436084dup, NC_000011.9:g.436083_436084dup, NC_000011.9:g.436082_436084dup, NC_000011.9:g.436064_436084T[24]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.436081_436084dup, NC_000011.9:g.436064_436084T[25]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.436080_436084dup, NC_000011.9:g.436064_436084T[26]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.436079_436084dup, NC_000011.9:g.436074_436084dup, NC_000011.9:g.436064_436084T[35]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.436064_436084dup, NC_000011.9:g.436084_436085insTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.436064_436084T[44]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.436084_436085insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052610.1:g.10937_10948del, NG_052610.1:g.10938_10948del, NG_052610.1:g.10939_10948del, NG_052610.1:g.10940_10948del, NG_052610.1:g.10943_10948del, NG_052610.1:g.10945_10948del, NG_052610.1:g.10946_10948del, NG_052610.1:g.10947_10948del, NG_052610.1:g.10948del, NG_052610.1:g.10948dup, NG_052610.1:g.10947_10948dup, NG_052610.1:g.10946_10948dup, NG_052610.1:g.10928_10948A[22]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_052610.1:g.10945_10948dup, NG_052610.1:g.10928_10948A[22]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_052610.1:g.10944_10948dup, NG_052610.1:g.10928_10948A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_052610.1:g.10943_10948dup, NG_052610.1:g.10938_10948dup, NG_052610.1:g.10928_10948A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_052610.1:g.10928_10948dup, NG_052610.1:g.10948_10949insAAAAAAAAAAAAAAAAAAAAAAA, NG_052610.1:g.10928_10948A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_052610.1:g.10948_10949insAAAAAAAAAAAAAAAAAAAAAAAAAAA
        4.

        rs1491118428 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AG>- [Show Flanks]
          Chromosome:
          11:435773 (GRCh38)
          11:435773 (GRCh37)
          Canonical SPDI:
          NC_000011.10:435772:AG:
          Gene:
          ANO9 (Varview), LOC105376506 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1490949899 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,T [Show Flanks]
            Chromosome:
            11:434762 (GRCh38)
            11:434762 (GRCh37)
            Canonical SPDI:
            NC_000011.10:434761:A:C,NC_000011.10:434761:A:T
            Gene:
            ANO9 (Varview), LOC105376506 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490895173 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:422049 (GRCh38)
              11:422049 (GRCh37)
              Canonical SPDI:
              NC_000011.10:422048:C:T
              Gene:
              ANO9 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1490752979 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                11:439689 (GRCh38)
                11:439689 (GRCh37)
                Canonical SPDI:
                NC_000011.10:439688:C:G
                Gene:
                ANO9 (Varview), LOC105376506 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490748860 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  11:429647 (GRCh38)
                  11:429647 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:429646:C:T
                  Gene:
                  ANO9 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.000047/1 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1490707960 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    11:438622 (GRCh38)
                    11:438622 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:438621:C:A,NC_000011.10:438621:C:T
                    Gene:
                    ANO9 (Varview), LOC105376506 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490614375 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:437521 (GRCh38)
                      11:437521 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:437520:C:T
                      Gene:
                      ANO9 (Varview), LOC105376506 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      T=0.000029/4 (GnomAD)
                      HGVS:
                      11.

                      rs1490409367 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:425572 (GRCh38)
                        11:425572 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:425571:G:A
                        Gene:
                        ANO9 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.00045/2 (ALFA)
                        A=0.00014/2 (TOMMO)
                        A=0.00022/1 (Estonian)
                        HGVS:
                        12.

                        rs1490301561 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          11:416929 (GRCh38)
                          11:416929 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:416928:T:C
                          Gene:
                          SIGIRR (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490284448 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            11:429243 (GRCh38)
                            11:429243 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:429242:G:A,NC_000011.10:429242:G:C
                            Gene:
                            ANO9 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1490182019 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:434375 (GRCh38)
                              11:434375 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:434374:A:G
                              Gene:
                              ANO9 (Varview), LOC105376506 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1490131289 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:435137 (GRCh38)
                                11:435137 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:435136:G:A
                                Gene:
                                ANO9 (Varview), LOC105376506 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490031768 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  11:423518 (GRCh38)
                                  11:423518 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:423517:T:G
                                  Gene:
                                  ANO9 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489998712 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    11:424910 (GRCh38)
                                    11:424910 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:424909:T:C
                                    Gene:
                                    ANO9 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489761737 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:438528 (GRCh38)
                                      11:438528 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:438527:T:C
                                      Gene:
                                      ANO9 (Varview), LOC105376506 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1489741463 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        11:429939 (GRCh38)
                                        11:429939 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:429938:T:C,NC_000011.10:429938:T:G
                                        Gene:
                                        ANO9 (Varview), LOC105376506 (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        G=0.0203/57 (KOREAN)
                                        T=0.5/1 (SGDP_PRJ)
                                        HGVS:
                                        20.

                                        rs1489627129 has merged into rs148462393 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA [Show Flanks]
                                          Chromosome:
                                          11:421385 (GRCh38)
                                          11:421385 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:421370:CACACACACACACACACACACA:CACACACACACACA,NC_000011.10:421370:CACACACACACACACACACACA:CACACACACACACACA,NC_000011.10:421370:CACACACACACACACACACACA:CACACACACACACACACA,NC_000011.10:421370:CACACACACACACACACACACA:CACACACACACACACACACA,NC_000011.10:421370:CACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000011.10:421370:CACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000011.10:421370:CACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000011.10:421370:CACACACACACACACACACACA:CACACACACACACACACACACACACACACA
                                          Gene:
                                          ANO9 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CACACACACACACACA=0./0 (ALFA)
                                          CA=0.04/24 (NorthernSweden)
                                          HGVS:

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