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Items: 1 to 20 of 1000

1.

rs1491434094 has merged into rs34111911 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    9:96778540 (GRCh38)
    9:99540822 (GRCh37)
    Canonical SPDI:
    NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    ZNF510 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTT=0./0 (ALFA)
    HGVS:
    NC_000009.12:g.96778540_96778544del, NC_000009.12:g.96778541_96778544del, NC_000009.12:g.96778542_96778544del, NC_000009.12:g.96778543_96778544del, NC_000009.12:g.96778544del, NC_000009.12:g.96778544dup, NC_000009.12:g.96778543_96778544dup, NC_000009.12:g.96778542_96778544dup, NC_000009.12:g.96778541_96778544dup, NC_000009.12:g.96778540_96778544dup, NC_000009.12:g.96778538_96778544dup, NC_000009.12:g.96778537_96778544dup, NC_000009.12:g.96778535_96778544dup, NC_000009.11:g.99540822_99540826del, NC_000009.11:g.99540823_99540826del, NC_000009.11:g.99540824_99540826del, NC_000009.11:g.99540825_99540826del, NC_000009.11:g.99540826del, NC_000009.11:g.99540826dup, NC_000009.11:g.99540825_99540826dup, NC_000009.11:g.99540824_99540826dup, NC_000009.11:g.99540823_99540826dup, NC_000009.11:g.99540822_99540826dup, NC_000009.11:g.99540820_99540826dup, NC_000009.11:g.99540819_99540826dup, NC_000009.11:g.99540817_99540826dup
    2.

    rs1491425036 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      9:96778528 (GRCh38)
      9:99540811 (GRCh37)
      Canonical SPDI:
      NC_000009.12:96778528::G
      Gene:
      ZNF510 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.00093/11 (ALFA)
      G=0.00252/39 (TOMMO)
      G=0.00552/472 (GnomAD)
      HGVS:
      3.

      rs1491249123 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C,T,TAT [Show Flanks]
        Chromosome:
        9:96770612 (GRCh38)
        9:99532895 (GRCh37)
        Canonical SPDI:
        NC_000009.12:96770612::C,NC_000009.12:96770612::T,NC_000009.12:96770612::TAT
        Gene:
        ZNF510 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TAT=0.00013/2 (ALFA)
        T=0.00011/2 (TOMMO)
        T=0.00667/4 (NorthernSweden)
        HGVS:
        4.

        rs1491226487 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          9:96771433 (GRCh38)
          9:99533716 (GRCh37)
          Canonical SPDI:
          NC_000009.12:96771433::C
          Gene:
          ZNF510 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490880749 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            9:96763491 (GRCh38)
            9:99525773 (GRCh37)
            Canonical SPDI:
            NC_000009.12:96763490:T:C
            Gene:
            ZNF510 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000043/1 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000011/3 (TOPMED)
            C=0.000013/3 (GnomAD_exomes)
            HGVS:
            6.

            rs1490802064 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              9:96771510 (GRCh38)
              9:99533792 (GRCh37)
              Canonical SPDI:
              NC_000009.12:96771509:T:C
              Gene:
              ZNF510 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1490713804 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->ATT [Show Flanks]
                Chromosome:
                9:96766338 (GRCh38)
                9:99528621 (GRCh37)
                Canonical SPDI:
                NC_000009.12:96766338:TATT:TATTATT
                Gene:
                ZNF510 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TATTATT=0.001096/13 (ALFA)
                TAT=0.001326/165 (GnomAD)
                HGVS:
                8.

                rs1490700039 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  9:96772681 (GRCh38)
                  9:99534963 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:96772680:T:C
                  Gene:
                  ZNF510 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1490663154 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    9:96764575 (GRCh38)
                    9:99526857 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:96764574:A:T
                    Gene:
                    ZNF510 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1490630216 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      9:96756827 (GRCh38)
                      9:99519109 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:96756826:G:A
                      Gene:
                      ZNF510 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1490460640 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C,T [Show Flanks]
                        Chromosome:
                        9:96765446 (GRCh38)
                        9:99527728 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:96765445:G:A,NC_000009.12:96765445:G:C,NC_000009.12:96765445:G:T
                        Gene:
                        ZNF510 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        A=0.000283/5 (TOMMO)
                        HGVS:
                        12.

                        rs1490446339 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          9:96779775 (GRCh38)
                          9:99542057 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:96779774:T:C
                          Gene:
                          ZNF510 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000023/6 (TOPMED)
                          C=0.000029/4 (GnomAD)
                          HGVS:
                          13.

                          rs1490336453 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            9:96766285 (GRCh38)
                            9:99528567 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:96766284:T:C
                            Gene:
                            ZNF510 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs1490283285 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              C>- [Show Flanks]
                              Chromosome:
                              9:96780253 (GRCh38)
                              9:99542535 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:96780252:CC:C
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CC=0./0 (ALFA)
                              -=0.000014/2 (GnomAD)
                              -=0.000023/6 (TOPMED)
                              HGVS:
                              15.

                              rs1489895819 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                9:96767144 (GRCh38)
                                9:99529426 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:96767143:A:G
                                Gene:
                                ZNF510 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                G=0.000021/3 (GnomAD)
                                HGVS:
                                16.

                                rs1489860950 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->T [Show Flanks]
                                  Chromosome:
                                  9:96765430 (GRCh38)
                                  9:99527713 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:96765430:T:TT
                                  Gene:
                                  ZNF510 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  TT=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489844572 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    9:96765311 (GRCh38)
                                    9:99527593 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:96765310:A:G
                                    Gene:
                                    ZNF510 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489835529 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      9:96772580 (GRCh38)
                                      9:99534862 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:96772579:T:C
                                      Gene:
                                      ZNF510 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489812594 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        9:96757255 (GRCh38)
                                        9:99519537 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:96757254:T:C
                                        Gene:
                                        ZNF510 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489726154 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          9:96762467 (GRCh38)
                                          9:99524749 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:96762466:C:A
                                          Gene:
                                          ZNF510 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          HGVS:

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