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Items: 1 to 20 of 85852

1.

rs1491583092 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    3:10535385 (GRCh38)
    3:10577069 (GRCh37)
    Canonical SPDI:
    NC_000003.12:10535384:AT:
    Gene:
    ATP2B2 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000009/1 (GnomAD)
    -=0.004045/15 (TWINSUK)
    -=0.005449/21 (ALSPAC)
    HGVS:
    2.

    rs1491582138 has merged into rs71055820 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GG>-,G,GGG,GGGG,GGGGG,GGGGGG [Show Flanks]
      Chromosome:
      3:10505804 (GRCh38)
      3:10547488 (GRCh37)
      Canonical SPDI:
      NC_000003.12:10505797:GGGGGGGG:GGGGGG,NC_000003.12:10505797:GGGGGGGG:GGGGGGG,NC_000003.12:10505797:GGGGGGGG:GGGGGGGGG,NC_000003.12:10505797:GGGGGGGG:GGGGGGGGGG,NC_000003.12:10505797:GGGGGGGG:GGGGGGGGGGG,NC_000003.12:10505797:GGGGGGGG:GGGGGGGGGGGG
      Gene:
      ATP2B2 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGGGGGG=0./0 (ALFA)
      G=0.2895/11 (GENOME_DK)
      HGVS:
      3.

      rs1491567411 has merged into rs1553616064 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
        Chromosome:
        3:10486345 (GRCh38)
        3:10528029 (GRCh37)
        Canonical SPDI:
        NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:10486324:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
        Gene:
        ATP2B2 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
        -=0.000064/17 (TOPMED)
        -=0.000389/6 (TOMMO)
        HGVS:
        NC_000003.12:g.10486325GT[10], NC_000003.12:g.10486325GT[11], NC_000003.12:g.10486325GT[12], NC_000003.12:g.10486325GT[13], NC_000003.12:g.10486325GT[14], NC_000003.12:g.10486325GT[15], NC_000003.12:g.10486325GT[16], NC_000003.12:g.10486325GT[17], NC_000003.12:g.10486325GT[19], NC_000003.12:g.10486325GT[20], NC_000003.12:g.10486325GT[21], NC_000003.12:g.10486325GT[22], NC_000003.12:g.10486325GT[23], NC_000003.12:g.10486325GT[24], NC_000003.11:g.10528009GT[10], NC_000003.11:g.10528009GT[11], NC_000003.11:g.10528009GT[12], NC_000003.11:g.10528009GT[13], NC_000003.11:g.10528009GT[14], NC_000003.11:g.10528009GT[15], NC_000003.11:g.10528009GT[16], NC_000003.11:g.10528009GT[17], NC_000003.11:g.10528009GT[19], NC_000003.11:g.10528009GT[20], NC_000003.11:g.10528009GT[21], NC_000003.11:g.10528009GT[22], NC_000003.11:g.10528009GT[23], NC_000003.11:g.10528009GT[24], NG_012046.2:g.226672AC[10], NG_012046.2:g.226672AC[11], NG_012046.2:g.226672AC[12], NG_012046.2:g.226672AC[13], NG_012046.2:g.226672AC[14], NG_012046.2:g.226672AC[15], NG_012046.2:g.226672AC[16], NG_012046.2:g.226672AC[17], NG_012046.2:g.226672AC[19], NG_012046.2:g.226672AC[20], NG_012046.2:g.226672AC[21], NG_012046.2:g.226672AC[22], NG_012046.2:g.226672AC[23], NG_012046.2:g.226672AC[24]
        4.

        rs1491542750 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AT>- [Show Flanks]
          Chromosome:
          3:10516962 (GRCh38)
          3:10558646 (GRCh37)
          Canonical SPDI:
          NC_000003.12:10516961:AT:
          Gene:
          ATP2B2 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.000071/1 (ALFA)
          -=0.000011/3 (TOPMED)
          -=0.00003/4 (GnomAD)
          HGVS:
          5.

          rs1491532605 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->GTG [Show Flanks]
            Chromosome:
            3:10535418 (GRCh38)
            3:10577103 (GRCh37)
            Canonical SPDI:
            NC_000003.12:10535418::GTG
            Gene:
            ATP2B2 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            HGVS:
            6.

            rs1491481873 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->CATGTGTG [Show Flanks]
              Chromosome:
              3:10486325 (GRCh38)
              3:10528010 (GRCh37)
              Canonical SPDI:
              NC_000003.12:10486325:TGTGTG:TGTGTGCATGTGTG
              Gene:
              ATP2B2 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              TGTGTGCATGTGTG=0./0 (ALFA)
              HGVS:
              7.

              rs1491477731 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                GG>- [Show Flanks]
                Chromosome:
                3:10501372 (GRCh38)
                3:10543056 (GRCh37)
                Canonical SPDI:
                NC_000003.12:10501371:GG:
                Gene:
                ATP2B2 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.056839/364 (1000Genomes)
                -=0.060811/6630 (GnomAD)
                HGVS:
                8.

                rs1491472376 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  3:10472080 (GRCh38)
                  3:10513764 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:10472079:CA:
                  Gene:
                  ATP2B2 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.00211/25 (ALFA)
                  -=0.00994/161 (TOMMO)
                  HGVS:
                  9.

                  rs1491471080 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    AT>- [Show Flanks]
                    Chromosome:
                    3:10610137 (GRCh38)
                    3:10651822 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:10610136:AT:
                    Gene:
                    ATP2B2 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.00001/1 (GnomAD)
                    HGVS:
                    10.

                    rs1491439203 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      ->TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT
                      Chromosome:
                      no mapping
                      Canonical SPDI:
                      11.

                      rs1491436671 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        AT>- [Show Flanks]
                        Chromosome:
                        3:10564787 (GRCh38)
                        3:10606471 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:10564786:AT:
                        Gene:
                        ATP2B2 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1491436032 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AG>- [Show Flanks]
                          Chromosome:
                          3:10521593 (GRCh38)
                          3:10563277 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:10521589:GAGAG:GAG
                          Gene:
                          ATP2B2 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          GAG=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1491411592 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CG [Show Flanks]
                            Chromosome:
                            3:10505798 (GRCh38)
                            3:10547483 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:10505798:G:GCG
                            Gene:
                            ATP2B2 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            GCG=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1491383679 has merged into rs34073958 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              3:10686054 (GRCh38)
                              3:10727739 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:10686043:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              ATP2B2 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTTT=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000003.12:g.10686054_10686066del, NC_000003.12:g.10686055_10686066del, NC_000003.12:g.10686056_10686066del, NC_000003.12:g.10686057_10686066del, NC_000003.12:g.10686058_10686066del, NC_000003.12:g.10686059_10686066del, NC_000003.12:g.10686060_10686066del, NC_000003.12:g.10686061_10686066del, NC_000003.12:g.10686062_10686066del, NC_000003.12:g.10686063_10686066del, NC_000003.12:g.10686064_10686066del, NC_000003.12:g.10686065_10686066del, NC_000003.12:g.10686066del, NC_000003.12:g.10686066dup, NC_000003.12:g.10686065_10686066dup, NC_000003.12:g.10686064_10686066dup, NC_000003.12:g.10686063_10686066dup, NC_000003.12:g.10686062_10686066dup, NC_000003.12:g.10686061_10686066dup, NC_000003.12:g.10686060_10686066dup, NC_000003.12:g.10686059_10686066dup, NC_000003.12:g.10686058_10686066dup, NC_000003.12:g.10686057_10686066dup, NC_000003.12:g.10686056_10686066dup, NC_000003.12:g.10686055_10686066dup, NC_000003.12:g.10686053_10686066dup, NC_000003.12:g.10686051_10686066dup, NC_000003.12:g.10686050_10686066dup, NC_000003.12:g.10686049_10686066dup, NC_000003.12:g.10686048_10686066dup, NC_000003.12:g.10686047_10686066dup, NC_000003.12:g.10686046_10686066dup, NC_000003.12:g.10686045_10686066dup, NC_000003.12:g.10686044_10686066dup, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.10686066_10686067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727739_10727751del, NC_000003.11:g.10727740_10727751del, NC_000003.11:g.10727741_10727751del, NC_000003.11:g.10727742_10727751del, NC_000003.11:g.10727743_10727751del, NC_000003.11:g.10727744_10727751del, NC_000003.11:g.10727745_10727751del, NC_000003.11:g.10727746_10727751del, NC_000003.11:g.10727747_10727751del, NC_000003.11:g.10727748_10727751del, NC_000003.11:g.10727749_10727751del, NC_000003.11:g.10727750_10727751del, NC_000003.11:g.10727751del, NC_000003.11:g.10727751dup, NC_000003.11:g.10727750_10727751dup, NC_000003.11:g.10727749_10727751dup, NC_000003.11:g.10727748_10727751dup, NC_000003.11:g.10727747_10727751dup, NC_000003.11:g.10727746_10727751dup, NC_000003.11:g.10727745_10727751dup, NC_000003.11:g.10727744_10727751dup, NC_000003.11:g.10727743_10727751dup, NC_000003.11:g.10727742_10727751dup, NC_000003.11:g.10727741_10727751dup, NC_000003.11:g.10727740_10727751dup, NC_000003.11:g.10727738_10727751dup, NC_000003.11:g.10727736_10727751dup, NC_000003.11:g.10727735_10727751dup, NC_000003.11:g.10727734_10727751dup, NC_000003.11:g.10727733_10727751dup, NC_000003.11:g.10727732_10727751dup, NC_000003.11:g.10727731_10727751dup, NC_000003.11:g.10727730_10727751dup, NC_000003.11:g.10727729_10727751dup, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.10727751_10727752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012046.2:g.26976_26988del, NG_012046.2:g.26977_26988del, NG_012046.2:g.26978_26988del, NG_012046.2:g.26979_26988del, NG_012046.2:g.26980_26988del, NG_012046.2:g.26981_26988del, NG_012046.2:g.26982_26988del, NG_012046.2:g.26983_26988del, NG_012046.2:g.26984_26988del, NG_012046.2:g.26985_26988del, NG_012046.2:g.26986_26988del, NG_012046.2:g.26987_26988del, NG_012046.2:g.26988del, NG_012046.2:g.26988dup, NG_012046.2:g.26987_26988dup, NG_012046.2:g.26986_26988dup, NG_012046.2:g.26985_26988dup, NG_012046.2:g.26984_26988dup, NG_012046.2:g.26983_26988dup, NG_012046.2:g.26982_26988dup, NG_012046.2:g.26981_26988dup, NG_012046.2:g.26980_26988dup, NG_012046.2:g.26979_26988dup, NG_012046.2:g.26978_26988dup, NG_012046.2:g.26977_26988dup, NG_012046.2:g.26975_26988dup, NG_012046.2:g.26973_26988dup, NG_012046.2:g.26972_26988dup, NG_012046.2:g.26971_26988dup, NG_012046.2:g.26970_26988dup, NG_012046.2:g.26969_26988dup, NG_012046.2:g.26968_26988dup, NG_012046.2:g.26967_26988dup, NG_012046.2:g.26966_26988dup, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012046.2:g.26988_26989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                              15.

                              rs1491366570 has merged into rs773018694 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TGTGTG>-,TG,TGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG [Show Flanks]
                                Chromosome:
                                3:10356149 (GRCh38)
                                3:10397833 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:10356147:GTGTGTG:G,NC_000003.12:10356147:GTGTGTG:GTG,NC_000003.12:10356147:GTGTGTG:GTGTG,NC_000003.12:10356147:GTGTGTG:GTGTGTGTG,NC_000003.12:10356147:GTGTGTG:GTGTGTGTGTG,NC_000003.12:10356147:GTGTGTG:GTGTGTGTGTGTG,NC_000003.12:10356147:GTGTGTG:GTGTGTGTGTGTGTG,NC_000003.12:10356147:GTGTGTG:GTGTGTGTGTGTGTGTG,NC_000003.12:10356147:GTGTGTG:GTGTGTGTGTGTGTGTGTG
                                Gene:
                                ATP2B2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GTGTG=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1491358177 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  C>-,CC [Show Flanks]
                                  Chromosome:
                                  3:10623077 (GRCh38)
                                  3:10664762 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:10623076:CCC:CC,NC_000003.12:10623076:CCC:CCCC
                                  Gene:
                                  ATP2B2 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CCCC=0./0 (ALFA)
                                  -=0.00004/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1491338630 has merged into rs61701156 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    3:10573162 (GRCh38)
                                    3:10614846 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:10573151:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:10573151:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:10573151:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:10573151:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:10573151:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:10573151:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:10573151:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:10573151:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    ATP2B2 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTTT=0./0 (ALFA)
                                    T=0.4563/2285 (1000Genomes)
                                    T=0.475/19 (GENOME_DK)
                                    HGVS:
                                    18.

                                    rs1491335361 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->AC [Show Flanks]
                                      Chromosome:
                                      3:10487240 (GRCh38)
                                      3:10528925 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:10487240:C:CAC
                                      Gene:
                                      ATP2B2 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      CAC=0./0 (ALFA)
                                      CA=0.000021/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1491303327 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->AG,AGAG [Show Flanks]
                                        Chromosome:
                                        3:10471365 (GRCh38)
                                        3:10513050 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:10471365:G:GAG,NC_000003.12:10471365:G:GAGAG
                                        Gene:
                                        ATP2B2 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GAGAG=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1491300027 has merged into rs6147706 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ACACACACACACACACACACACACACACACACACAC>-,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
                                          Chromosome:
                                          3:10512482 (GRCh38)
                                          3:10554166 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:10512464:CACACACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
                                          Gene:
                                          ATP2B2 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CACACACACACACACACACACACACAC=0./0 (ALFA)
                                          -=0.1783/661 (TWINSUK)
                                          -=0.1827/704 (ALSPAC)
                                          HGVS:
                                          NC_000003.12:g.10512466AC[8], NC_000003.12:g.10512466AC[13], NC_000003.12:g.10512466AC[14], NC_000003.12:g.10512466AC[15], NC_000003.12:g.10512466AC[16], NC_000003.12:g.10512466AC[17], NC_000003.12:g.10512466AC[18], NC_000003.12:g.10512466AC[19], NC_000003.12:g.10512466AC[20], NC_000003.12:g.10512466AC[21], NC_000003.12:g.10512466AC[22], NC_000003.12:g.10512466AC[23], NC_000003.12:g.10512466AC[24], NC_000003.12:g.10512466AC[25], NC_000003.12:g.10512466AC[27], NC_000003.12:g.10512466AC[28], NC_000003.12:g.10512466AC[29], NC_000003.12:g.10512466AC[30], NC_000003.12:g.10512466AC[31], NC_000003.12:g.10512466AC[32], NC_000003.12:g.10512466AC[33], NC_000003.12:g.10512466AC[34], NC_000003.12:g.10512466AC[38], NC_000003.12:g.10512466AC[41], NC_000003.11:g.10554150AC[8], NC_000003.11:g.10554150AC[13], NC_000003.11:g.10554150AC[14], NC_000003.11:g.10554150AC[15], NC_000003.11:g.10554150AC[16], NC_000003.11:g.10554150AC[17], NC_000003.11:g.10554150AC[18], NC_000003.11:g.10554150AC[19], NC_000003.11:g.10554150AC[20], NC_000003.11:g.10554150AC[21], NC_000003.11:g.10554150AC[22], NC_000003.11:g.10554150AC[23], NC_000003.11:g.10554150AC[24], NC_000003.11:g.10554150AC[25], NC_000003.11:g.10554150AC[27], NC_000003.11:g.10554150AC[28], NC_000003.11:g.10554150AC[29], NC_000003.11:g.10554150AC[30], NC_000003.11:g.10554150AC[31], NC_000003.11:g.10554150AC[32], NC_000003.11:g.10554150AC[33], NC_000003.11:g.10554150AC[34], NC_000003.11:g.10554150AC[38], NC_000003.11:g.10554150AC[41], NG_012046.2:g.200516TG[8], NG_012046.2:g.200516TG[13], NG_012046.2:g.200516TG[14], NG_012046.2:g.200516TG[15], NG_012046.2:g.200516TG[16], NG_012046.2:g.200516TG[17], NG_012046.2:g.200516TG[18], NG_012046.2:g.200516TG[19], NG_012046.2:g.200516TG[20], NG_012046.2:g.200516TG[21], NG_012046.2:g.200516TG[22], NG_012046.2:g.200516TG[23], NG_012046.2:g.200516TG[24], NG_012046.2:g.200516TG[25], NG_012046.2:g.200516TG[27], NG_012046.2:g.200516TG[28], NG_012046.2:g.200516TG[29], NG_012046.2:g.200516TG[30], NG_012046.2:g.200516TG[31], NG_012046.2:g.200516TG[32], NG_012046.2:g.200516TG[33], NG_012046.2:g.200516TG[34], NG_012046.2:g.200516TG[38], NG_012046.2:g.200516TG[41]

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