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Items: 1 to 20 of 1085

1.

rs1490987402 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    X:154424873 (GRCh38)
    X:153653216 (GRCh37)
    Canonical SPDI:
    NC_000023.11:154424872:G:A
    Gene:
    ATP6AP1-DT (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000026/7 (TOPMED)
    A=0.000029/3 (GnomAD)
    A=0.000225/3 (TOMMO)
    A=0.001027/3 (KOREAN)
    HGVS:
    2.

    rs1488597145 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      X:154426936 (GRCh38)
      X:153655281 (GRCh37)
      Canonical SPDI:
      NC_000023.11:154426935:G:A
      Gene:
      ATP6AP1 (Varview), ATP6AP1-DT (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000011/3 (TOPMED)
      A=0.000019/2 (GnomAD)
      HGVS:
      3.

      rs1488004512 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->T [Show Flanks]
        Chromosome:
        X:154429747 (GRCh38)
        X:153658094 (GRCh37)
        Canonical SPDI:
        NC_000023.11:154429747:T:TT
        Gene:
        ATP6AP1 (Varview), ATP6AP1-DT (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        TT=0./0 (ALFA)
        T=0.000023/6 (TOPMED)
        HGVS:
        4.

        rs1487957382 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          X:154426039 (GRCh38)
          X:153654384 (GRCh37)
          Canonical SPDI:
          NC_000023.11:154426038:C:T
          Gene:
          ATP6AP1-DT (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.00006/6 (GnomAD)
          C=0.5/1 (SGDP_PRJ)
          HGVS:
          5.

          rs1487929719 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            X:154425467 (GRCh38)
            X:153653810 (GRCh37)
            Canonical SPDI:
            NC_000023.11:154425466:T:C
            Gene:
            ATP6AP1-DT (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000084/1 (ALFA)
            C=0.000011/3 (TOPMED)
            C=0.00002/2 (GnomAD)
            HGVS:
            6.

            rs1487868549 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              X:154426373 (GRCh38)
              X:153654718 (GRCh37)
              Canonical SPDI:
              NC_000023.11:154426372:G:A
              Gene:
              ATP6AP1-DT (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.00008/1 (ALFA)
              A=0.00002/2 (GnomAD)
              HGVS:
              7.

              rs1487594839 has merged into rs145023926 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                X:154425938 (GRCh38)
                X:153654281 (GRCh37)
                Canonical SPDI:
                NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:154425927:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                ATP6AP1-DT (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTT=0./0 (ALFA)
                TTT=0.06854/198 (ALSPAC)
                TTT=0.07632/283 (TWINSUK)
                HGVS:
                NC_000023.11:g.154425938_154425950del, NC_000023.11:g.154425940_154425950del, NC_000023.11:g.154425941_154425950del, NC_000023.11:g.154425943_154425950del, NC_000023.11:g.154425944_154425950del, NC_000023.11:g.154425945_154425950del, NC_000023.11:g.154425947_154425950del, NC_000023.11:g.154425948_154425950del, NC_000023.11:g.154425949_154425950del, NC_000023.11:g.154425950del, NC_000023.11:g.154425950dup, NC_000023.11:g.154425949_154425950dup, NC_000023.11:g.154425948_154425950dup, NC_000023.11:g.154425947_154425950dup, NC_000023.11:g.154425946_154425950dup, NC_000023.11:g.154425945_154425950dup, NC_000023.11:g.154425944_154425950dup, NC_000023.11:g.154425943_154425950dup, NC_000023.11:g.154425942_154425950dup, NC_000023.11:g.154425941_154425950dup, NC_000023.11:g.154425940_154425950dup, NC_000023.11:g.154425936_154425950dup, NC_000023.11:g.154425935_154425950dup, NC_000023.11:g.154425934_154425950dup, NC_000023.11:g.154425950_154425951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003871103.3:g.1859917_1859929del, NW_003871103.3:g.1859919_1859929del, NW_003871103.3:g.1859920_1859929del, NW_003871103.3:g.1859922_1859929del, NW_003871103.3:g.1859923_1859929del, NW_003871103.3:g.1859924_1859929del, NW_003871103.3:g.1859926_1859929del, NW_003871103.3:g.1859927_1859929del, NW_003871103.3:g.1859928_1859929del, NW_003871103.3:g.1859929del, NW_003871103.3:g.1859929dup, NW_003871103.3:g.1859928_1859929dup, NW_003871103.3:g.1859927_1859929dup, NW_003871103.3:g.1859926_1859929dup, NW_003871103.3:g.1859925_1859929dup, NW_003871103.3:g.1859924_1859929dup, NW_003871103.3:g.1859923_1859929dup, NW_003871103.3:g.1859922_1859929dup, NW_003871103.3:g.1859921_1859929dup, NW_003871103.3:g.1859920_1859929dup, NW_003871103.3:g.1859919_1859929dup, NW_003871103.3:g.1859915_1859929dup, NW_003871103.3:g.1859914_1859929dup, NW_003871103.3:g.1859913_1859929dup, NW_003871103.3:g.1859929_1859930insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052807.1:g.2307_2319del, NG_052807.1:g.2309_2319del, NG_052807.1:g.2310_2319del, NG_052807.1:g.2312_2319del, NG_052807.1:g.2313_2319del, NG_052807.1:g.2314_2319del, NG_052807.1:g.2316_2319del, NG_052807.1:g.2317_2319del, NG_052807.1:g.2318_2319del, NG_052807.1:g.2319del, NG_052807.1:g.2319dup, NG_052807.1:g.2318_2319dup, NG_052807.1:g.2317_2319dup, NG_052807.1:g.2316_2319dup, NG_052807.1:g.2315_2319dup, NG_052807.1:g.2314_2319dup, NG_052807.1:g.2313_2319dup, NG_052807.1:g.2312_2319dup, NG_052807.1:g.2311_2319dup, NG_052807.1:g.2310_2319dup, NG_052807.1:g.2309_2319dup, NG_052807.1:g.2305_2319dup, NG_052807.1:g.2304_2319dup, NG_052807.1:g.2303_2319dup, NG_052807.1:g.2319_2320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.153654283_153654295del, NC_000023.10:g.153654285_153654295del, NC_000023.10:g.153654286_153654295del, NC_000023.10:g.153654288_153654295del, NC_000023.10:g.153654289_153654295del, NC_000023.10:g.153654290_153654295del, NC_000023.10:g.153654292_153654295del, NC_000023.10:g.153654293_153654295del, NC_000023.10:g.153654294_153654295del, NC_000023.10:g.153654295del, NC_000023.10:g.153654295dup, NC_000023.10:g.153654294_153654295dup, NC_000023.10:g.153654293_153654295dup, NC_000023.10:g.153654292_153654295dup, NC_000023.10:g.153654291_153654295dup, NC_000023.10:g.153654290_153654295dup, NC_000023.10:g.153654289_153654295dup, NC_000023.10:g.153654288_153654295dup, NC_000023.10:g.153654287_153654295dup, NC_000023.10:g.153654286_153654295dup, NC_000023.10:g.153654285_153654295dup, NC_000023.10:g.153654281_153654295dup, NC_000023.10:g.153654280_153654295dup, NC_000023.10:g.153654279_153654295dup, NC_000023.10:g.153654295_153654296insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                8.

                rs1486772944 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  X:154430071 (GRCh38)
                  X:153658417 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:154430070:C:T
                  Gene:
                  ATP6AP1 (Varview), ATP6AP1-DT (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.00003/8 (TOPMED)
                  HGVS:
                  9.

                  rs1486633271 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    X:154428253 (GRCh38)
                    X:153656599 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:154428252:A:G
                    Gene:
                    ATP6AP1 (Varview), ATP6AP1-DT (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1486556240 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      X:154428628 (GRCh38)
                      X:153656974 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:154428627:G:A
                      Gene:
                      ATP6AP1 (Varview), ATP6AP1-DT (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000026/7 (TOPMED)
                      A=0.00009/1 (TOMMO)
                      HGVS:
                      11.

                      rs1485577622 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        X:154428072 (GRCh38)
                        X:153656418 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:154428071:A:G
                        Gene:
                        ATP6AP1 (Varview), ATP6AP1-DT (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000015/4 (TOPMED)
                        G=0.000019/2 (GnomAD)
                        HGVS:
                        12.

                        rs1484965917 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          X:154424669 (GRCh38)
                          X:153653012 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:154424668:T:C
                          Gene:
                          ATP6AP1-DT (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.00001/1 (GnomAD)
                          HGVS:
                          13.

                          rs1484482462 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:154429325 (GRCh38)
                            X:153657671 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:154429324:G:A
                            Gene:
                            ATP6AP1 (Varview), ATP6AP1-DT (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000017/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1483647629 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              X:154426638 (GRCh38)
                              X:153654983 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:154426637:A:G
                              Gene:
                              ATP6AP1-DT (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1483212816 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                X:154426731 (GRCh38)
                                X:153655076 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:154426730:C:T
                                Gene:
                                ATP6AP1 (Varview), ATP6AP1-DT (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.00001/1 (GnomAD)
                                T=0.000026/7 (TOPMED)
                                HGVS:
                                16.

                                rs1483000866 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  X:154425861 (GRCh38)
                                  X:153654204 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:154425860:G:A
                                  Gene:
                                  ATP6AP1-DT (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000026/7 (TOPMED)
                                  A=0.00003/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1481497250 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    X:154424976 (GRCh38)
                                    X:153653319 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:154424975:C:T
                                    Gene:
                                    ATP6AP1-DT (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.00001/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1479297419 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,C [Show Flanks]
                                      Chromosome:
                                      X:154426093 (GRCh38)
                                      X:153654438 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:154426092:T:A,NC_000023.11:154426092:T:C
                                      Gene:
                                      ATP6AP1-DT (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.00031/5 (ALFA)
                                      C=0.00031/4 (TOMMO)
                                      C=0.00062/3 (1000Genomes)
                                      C=0.04598/134 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1477895347 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        X:154426436 (GRCh38)
                                        X:153654781 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:154426435:C:T
                                        Gene:
                                        ATP6AP1-DT (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.00003/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1477350962 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          C>- [Show Flanks]
                                          Chromosome:
                                          X:154426452 (GRCh38)
                                          X:153654797 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:154426451:C:
                                          Gene:
                                          ATP6AP1-DT (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.00086/19 (TOMMO)
                                          HGVS:

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