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Items: 1 to 20 of 27961

1.

rs1491509528 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    10:79028909 (GRCh38)
    10:80788666 (GRCh37)
    Canonical SPDI:
    NC_000010.11:79028908:CT:
    Gene:
    ZMIZ1-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.000506/6 (ALFA)
    -=0.000984/100 (GnomAD)
    -=0.00303/51 (TOMMO)
    HGVS:
    2.

    rs1491474008 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TC>- [Show Flanks]
      Chromosome:
      10:79049602 (GRCh38)
      10:80809359 (GRCh37)
      Canonical SPDI:
      NC_000010.11:79049601:TC:
      Gene:
      ZMIZ1-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00008/1 (ALFA)
      HGVS:
      3.

      rs1491469325 has merged into rs60756550 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GGG>-,G,GG,GGGG,GGGGG [Show Flanks]
        Chromosome:
        10:79024119 (GRCh38)
        10:80783876 (GRCh37)
        Canonical SPDI:
        NC_000010.11:79024110:GGGGGGGGGGG:GGGGGGGG,NC_000010.11:79024110:GGGGGGGGGGG:GGGGGGGGG,NC_000010.11:79024110:GGGGGGGGGGG:GGGGGGGGGG,NC_000010.11:79024110:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000010.11:79024110:GGGGGGGGGGG:GGGGGGGGGGGGG
        Gene:
        ZMIZ1-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GGGGGGGGG=0./0 (ALFA)
        -=0.2887/153 (NorthernSweden)
        HGVS:
        4.

        rs1491443204 has merged into rs368491905 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
          Chromosome:
          10:79028925 (GRCh38)
          10:80788682 (GRCh37)
          Canonical SPDI:
          NC_000010.11:79028909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:79028909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:79028909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:79028909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:79028909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:79028909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
          Gene:
          ZMIZ1-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTTTT=0./0 (ALFA)
          -=0.0603/27 (NorthernSweden)
          HGVS:
          5.

          rs1491414653 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->CG,TG [Show Flanks]
            Chromosome:
            10:79024111 (GRCh38)
            10:80783869 (GRCh37)
            Canonical SPDI:
            NC_000010.11:79024111:G:GCG,NC_000010.11:79024111:G:GTG
            Gene:
            ZMIZ1-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            GC=0.00006/1 (TOMMO)
            HGVS:
            6.

            rs1491414365 has merged into rs36037231 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
              Chromosome:
              10:79031443 (GRCh38)
              10:80791200 (GRCh37)
              Canonical SPDI:
              NC_000010.11:79031429:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000010.11:79031429:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000010.11:79031429:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000010.11:79031429:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA
              Gene:
              ZMIZ1-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AGAGAGAGAGAGAGA=0./0 (ALFA)
              AG=0.051843/260 (1000Genomes)
              AG=0.086403/22870 (TOPMED)
              AG=0.116667/70 (NorthernSweden)
              AG=0.122098/547 (Estonian)
              AG=0.146293/146 (GoNL)
              HGVS:
              7.

              rs1491403406 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                TG>- [Show Flanks]
                Chromosome:
                10:78957848 (GRCh38)
                10:80717605 (GRCh37)
                Canonical SPDI:
                NC_000010.11:78957847:TG:
                Gene:
                ZMIZ1-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency
                MAF:
                -=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1491393017 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  TG>- [Show Flanks]
                  Chromosome:
                  10:78989722 (GRCh38)
                  10:80749479 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:78989721:TG:
                  Gene:
                  ZMIZ1-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00051/6 (ALFA)
                  HGVS:
                  9.

                  rs1491390983 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GC>- [Show Flanks]
                    Chromosome:
                    10:79049605 (GRCh38)
                    10:80809362 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:79049603:CGC:C
                    Gene:
                    ZMIZ1-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.01821/216 (ALFA)
                    -=0.00015/2 (TOMMO)
                    -=0.00111/2 (Korea1K)
                    -=0.02009/617 (GnomAD)
                    HGVS:
                    10.

                    rs1491361105 has merged into rs386371915 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      10:78976352 (GRCh38)
                      10:80736109 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      ZMIZ1-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTTTTT=0./0 (ALFA)
                      TT=0.16909/627 (TWINSUK)
                      TT=0.19201/740 (ALSPAC)
                      HGVS:
                      NC_000010.11:g.78976352_78976356del, NC_000010.11:g.78976353_78976356del, NC_000010.11:g.78976354_78976356del, NC_000010.11:g.78976355_78976356del, NC_000010.11:g.78976356del, NC_000010.11:g.78976356dup, NC_000010.11:g.78976355_78976356dup, NC_000010.11:g.78976354_78976356dup, NC_000010.11:g.78976353_78976356dup, NC_000010.11:g.78976352_78976356dup, NC_000010.11:g.78976351_78976356dup, NC_000010.11:g.78976349_78976356dup, NC_000010.11:g.78976356_78976357insTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.80736109_80736113del, NC_000010.10:g.80736110_80736113del, NC_000010.10:g.80736111_80736113del, NC_000010.10:g.80736112_80736113del, NC_000010.10:g.80736113del, NC_000010.10:g.80736113dup, NC_000010.10:g.80736112_80736113dup, NC_000010.10:g.80736111_80736113dup, NC_000010.10:g.80736110_80736113dup, NC_000010.10:g.80736109_80736113dup, NC_000010.10:g.80736108_80736113dup, NC_000010.10:g.80736106_80736113dup, NC_000010.10:g.80736113_80736114insTTTTTTTTTTTTTTTTTTTT
                      11.

                      rs1491225287 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        10:79003266 (GRCh38)
                        10:80763023 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:79003265:CA:
                        Gene:
                        ZMIZ1-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491220605 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->CTT [Show Flanks]
                          Chromosome:
                          10:78976340 (GRCh38)
                          10:80736098 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:78976340:TT:TTCTT
                          Gene:
                          ZMIZ1-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TTCTT=0.00008/1 (ALFA)
                          TTC=0.00004/3 (GnomAD)
                          HGVS:
                          13.

                          rs1491218735 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->AG,CG,TG [Show Flanks]
                            Chromosome:
                            10:79067987 (GRCh38)
                            10:80827745 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:79067987:G:GAG,NC_000010.11:79067987:G:GCG,NC_000010.11:79067987:G:GTG
                            Gene:
                            ZMIZ1 (Varview), ZMIZ1-AS1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GCG=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1491118413 has merged into rs60823425 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              CT>- [Show Flanks]
                              Chromosome:
                              10:79026180 (GRCh38)
                              10:80785937 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:79026179:CT:
                              Gene:
                              ZMIZ1-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by cluster
                              HGVS:
                              15.

                              rs1491112341 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->CGGA [Show Flanks]
                                Chromosome:
                                10:78957848 (GRCh38)
                                10:80717606 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:78957848:GGA:GGACGGA
                                Gene:
                                ZMIZ1-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GGACGGA=0./0 (ALFA)
                                GGAC=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1491055631 has merged into rs35975465 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAAAAAAAA>-,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  10:79062496 (GRCh38)
                                  10:80822253 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  ZMIZ1-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAAAAAAA=0./0 (ALFA)
                                  A=0.375/3 (KOREAN)
                                  HGVS:
                                  17.

                                  rs1491040197 has merged into rs34771208 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
                                    Chromosome:
                                    10:78991655 (GRCh38)
                                    10:80751412 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:78991644:TTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:78991644:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:78991644:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:78991644:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:78991644:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
                                    Gene:
                                    ZMIZ1-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTTTTTT=0./0 (ALFA)
                                    T=0.315/1168 (TWINSUK)
                                    T=0.3394/1308 (ALSPAC)
                                    HGVS:
                                    18.

                                    rs1490992923 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      10:79055203 (GRCh38)
                                      10:80814960 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:79055202:A:G
                                      Gene:
                                      ZMIZ1-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490973159 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        10:79001601 (GRCh38)
                                        10:80761358 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:79001600:A:G
                                        Gene:
                                        ZMIZ1-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490954524 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          10:79016098 (GRCh38)
                                          10:80775855 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:79016097:C:G
                                          Gene:
                                          ZMIZ1-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000014/2 (GnomAD)
                                          G=0.000015/4 (TOPMED)
                                          HGVS:

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