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Items: 1 to 20 of 13685

1.

rs1491450561 has merged into rs1169680816 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    15:78806136 (GRCh38)
    15:79098478 (GRCh37)
    Canonical SPDI:
    NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:78806127:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    ADAMTS7 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000015.10:g.78806136_78806155del, NC_000015.10:g.78806137_78806155del, NC_000015.10:g.78806138_78806155del, NC_000015.10:g.78806139_78806155del, NC_000015.10:g.78806140_78806155del, NC_000015.10:g.78806141_78806155del, NC_000015.10:g.78806142_78806155del, NC_000015.10:g.78806143_78806155del, NC_000015.10:g.78806144_78806155del, NC_000015.10:g.78806145_78806155del, NC_000015.10:g.78806146_78806155del, NC_000015.10:g.78806147_78806155del, NC_000015.10:g.78806148_78806155del, NC_000015.10:g.78806149_78806155del, NC_000015.10:g.78806150_78806155del, NC_000015.10:g.78806151_78806155del, NC_000015.10:g.78806152_78806155del, NC_000015.10:g.78806153_78806155del, NC_000015.10:g.78806154_78806155del, NC_000015.10:g.78806155del, NC_000015.10:g.78806155dup, NC_000015.10:g.78806154_78806155dup, NC_000015.10:g.78806153_78806155dup, NC_000015.10:g.78806152_78806155dup, NC_000015.10:g.78806151_78806155dup, NC_000015.10:g.78806149_78806155dup, NC_000015.9:g.79098478_79098497del, NC_000015.9:g.79098479_79098497del, NC_000015.9:g.79098480_79098497del, NC_000015.9:g.79098481_79098497del, NC_000015.9:g.79098482_79098497del, NC_000015.9:g.79098483_79098497del, NC_000015.9:g.79098484_79098497del, NC_000015.9:g.79098485_79098497del, NC_000015.9:g.79098486_79098497del, NC_000015.9:g.79098487_79098497del, NC_000015.9:g.79098488_79098497del, NC_000015.9:g.79098489_79098497del, NC_000015.9:g.79098490_79098497del, NC_000015.9:g.79098491_79098497del, NC_000015.9:g.79098492_79098497del, NC_000015.9:g.79098493_79098497del, NC_000015.9:g.79098494_79098497del, NC_000015.9:g.79098495_79098497del, NC_000015.9:g.79098496_79098497del, NC_000015.9:g.79098497del, NC_000015.9:g.79098497dup, NC_000015.9:g.79098496_79098497dup, NC_000015.9:g.79098495_79098497dup, NC_000015.9:g.79098494_79098497dup, NC_000015.9:g.79098493_79098497dup, NC_000015.9:g.79098491_79098497dup, NG_011492.1:g.10285_10304del, NG_011492.1:g.10286_10304del, NG_011492.1:g.10287_10304del, NG_011492.1:g.10288_10304del, NG_011492.1:g.10289_10304del, NG_011492.1:g.10290_10304del, NG_011492.1:g.10291_10304del, NG_011492.1:g.10292_10304del, NG_011492.1:g.10293_10304del, NG_011492.1:g.10294_10304del, NG_011492.1:g.10295_10304del, NG_011492.1:g.10296_10304del, NG_011492.1:g.10297_10304del, NG_011492.1:g.10298_10304del, NG_011492.1:g.10299_10304del, NG_011492.1:g.10300_10304del, NG_011492.1:g.10301_10304del, NG_011492.1:g.10302_10304del, NG_011492.1:g.10303_10304del, NG_011492.1:g.10304del, NG_011492.1:g.10304dup, NG_011492.1:g.10303_10304dup, NG_011492.1:g.10302_10304dup, NG_011492.1:g.10301_10304dup, NG_011492.1:g.10300_10304dup, NG_011492.1:g.10298_10304dup
    2.

    rs1491423873 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AA>- [Show Flanks]
      Chromosome:
      15:78791291 (GRCh38)
      15:79083633 (GRCh37)
      Canonical SPDI:
      NC_000015.10:78791290:AA:
      Gene:
      ADAMTS7 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      -=0.001327/173 (GnomAD)
      -=0.004499/75 (TOMMO)
      HGVS:
      3.

      rs1491374967 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        15:78785563 (GRCh38)
        15:79077906 (GRCh37)
        Canonical SPDI:
        NC_000015.10:78785563::C
        Gene:
        ADAMTS7 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000022/3 (GnomAD)
        HGVS:
        4.

        rs1491243675 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->T [Show Flanks]
          Chromosome:
          15:78761746 (GRCh38)
          15:79054089 (GRCh37)
          Canonical SPDI:
          NC_000015.10:78761746:T:TT
          Gene:
          ADAMTS7 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          TT=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1491203417 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GA>- [Show Flanks]
            Chromosome:
            15:78785564 (GRCh38)
            15:79077906 (GRCh37)
            Canonical SPDI:
            NC_000015.10:78785562:AGA:A
            Gene:
            ADAMTS7 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:
            6.

            rs1491147383 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AA>- [Show Flanks]
              Chromosome:
              15:78791924 (GRCh38)
              15:79084266 (GRCh37)
              Canonical SPDI:
              NC_000015.10:78791922:AAA:A
              Gene:
              ADAMTS7 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by cluster
              HGVS:
              7.

              rs1491145070 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->C,CAC,CACAC,CACACAC,CACACACAC,CACACACACAC,CACACACACACAC,CACACACACACACAC,CACACACACACACACAC [Show Flanks]
                Chromosome:
                15:78806128 (GRCh38)
                15:79098471 (GRCh37)
                Canonical SPDI:
                NC_000015.10:78806128::C,NC_000015.10:78806128::CAC,NC_000015.10:78806128::CACAC,NC_000015.10:78806128::CACACAC,NC_000015.10:78806128::CACACACAC,NC_000015.10:78806128::CACACACACAC,NC_000015.10:78806128::CACACACACACAC,NC_000015.10:78806128::CACACACACACACAC,NC_000015.10:78806128::CACACACACACACACAC
                Gene:
                ADAMTS7 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CAC=0./0 (ALFA)
                HGVS:
                NC_000015.10:g.78806128_78806129insC, NC_000015.10:g.78806128_78806129insCAC, NC_000015.10:g.78806128_78806129insCACAC, NC_000015.10:g.78806128_78806129insCACACAC, NC_000015.10:g.78806128_78806129insCACACACAC, NC_000015.10:g.78806128_78806129insCACACACACAC, NC_000015.10:g.78806128_78806129insCACACACACACAC, NC_000015.10:g.78806128_78806129insCACACACACACACAC, NC_000015.10:g.78806128_78806129insCACACACACACACACAC, NC_000015.9:g.79098470_79098471insC, NC_000015.9:g.79098470_79098471insCAC, NC_000015.9:g.79098470_79098471insCACAC, NC_000015.9:g.79098470_79098471insCACACAC, NC_000015.9:g.79098470_79098471insCACACACAC, NC_000015.9:g.79098470_79098471insCACACACACAC, NC_000015.9:g.79098470_79098471insCACACACACACAC, NC_000015.9:g.79098470_79098471insCACACACACACACAC, NC_000015.9:g.79098470_79098471insCACACACACACACACAC, NG_011492.1:g.10303_10304insG, NG_011492.1:g.10303_10304insGTG, NG_011492.1:g.10303_10304insGTGTG, NG_011492.1:g.10303_10304insGTGTGTG, NG_011492.1:g.10303_10304insGTGTGTGTG, NG_011492.1:g.10303_10304insGTGTGTGTGTG, NG_011492.1:g.10303_10304insGTGTGTGTGTGTG, NG_011492.1:g.10303_10304insGTGTGTGTGTGTGTG, NG_011492.1:g.10303_10304insGTGTGTGTGTGTGTGTG
                8.

                rs1490975558 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  15:78786003 (GRCh38)
                  15:79078345 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:78786002:C:T
                  Gene:
                  ADAMTS7 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490974963 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    15:78761526 (GRCh38)
                    15:79053868 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:78761525:C:T
                    Gene:
                    ADAMTS7 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000014/2 (GnomAD)
                    T=0.000038/10 (TOPMED)
                    T=0.00463/1 (Vietnamese)
                    HGVS:
                    10.

                    rs1490958632 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      15:78762063 (GRCh38)
                      15:79054405 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:78762062:G:A
                      Gene:
                      ADAMTS7 (Varview)
                      Functional Consequence:
                      missense_variant,intron_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490941163 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        15:78774202 (GRCh38)
                        15:79066544 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:78774201:C:A
                        Gene:
                        ADAMTS7 (Varview)
                        Functional Consequence:
                        missense_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490909361 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          15:78794284 (GRCh38)
                          15:79086626 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:78794283:G:A
                          Gene:
                          ADAMTS7 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000156/1 (1000Genomes)
                          HGVS:
                          13.

                          rs1490901734 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            15:78808701 (GRCh38)
                            15:79101043 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:78808700:G:C
                            Gene:
                            ADAMTS7 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000014/2 (GnomAD)
                            C=0.000026/7 (TOPMED)
                            HGVS:
                            14.

                            rs1490865567 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              15:78809941 (GRCh38)
                              15:79102283 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:78809940:C:T
                              Gene:
                              ADAMTS7 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1490698539 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                15:78787208 (GRCh38)
                                15:79079550 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:78787207:C:G
                                Gene:
                                ADAMTS7 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000019/5 (TOPMED)
                                G=0.000021/3 (GnomAD)
                                HGVS:
                                16.

                                rs1490661974 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  15:78801874 (GRCh38)
                                  15:79094216 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:78801873:A:C
                                  Gene:
                                  ADAMTS7 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000011/3 (TOPMED)
                                  C=0.000029/4 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490563153 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    15:78785665 (GRCh38)
                                    15:79078007 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:78785664:A:T
                                    Gene:
                                    ADAMTS7 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490562262 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,G [Show Flanks]
                                      Chromosome:
                                      15:78802343 (GRCh38)
                                      15:79094685 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:78802342:T:A,NC_000015.10:78802342:T:G
                                      Gene:
                                      ADAMTS7 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000011/3 (TOPMED)
                                      G=0.000035/1 (TOMMO)
                                      A=0.000036/5 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490560982 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        15:78774582 (GRCh38)
                                        15:79066924 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:78774581:A:C
                                        Gene:
                                        ADAMTS7 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490538763 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          15:78786715 (GRCh38)
                                          15:79079057 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:78786714:T:C
                                          Gene:
                                          ADAMTS7 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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