U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 6894

1.

rs1491583339 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->TA [Show Flanks]
    Chromosome:
    1:169107770 (GRCh38)
    1:169077009 (GRCh37)
    Canonical SPDI:
    NC_000001.11:169107770::TA
    Gene:
    ATP1B1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TA=0.000071/1 (ALFA)
    TA=0.000014/2 (GnomAD)
    HGVS:

    2.

    rs1491349258 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      1:169123995 (GRCh38)
      1:169093234 (GRCh37)
      Canonical SPDI:
      NC_000001.11:169123995:AAAAAAA:AAAAAAAA
      Gene:
      ATP1B1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAA=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000015/4 (TOPMED)
      HGVS:

      3.

      rs1491314988 has merged into rs11423213 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        1:169110578 (GRCh38)
        1:169079816 (GRCh37)
        Canonical SPDI:
        NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169110567:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        ATP1B1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTT=0./0 (ALFA)
        -=0.000008/2 (TOPMED)
        HGVS:
        NC_000001.11:g.169110578_169110586del, NC_000001.11:g.169110580_169110586del, NC_000001.11:g.169110581_169110586del, NC_000001.11:g.169110582_169110586del, NC_000001.11:g.169110583_169110586del, NC_000001.11:g.169110584_169110586del, NC_000001.11:g.169110585_169110586del, NC_000001.11:g.169110586del, NC_000001.11:g.169110586dup, NC_000001.11:g.169110585_169110586dup, NC_000001.11:g.169110584_169110586dup, NC_000001.11:g.169110583_169110586dup, NC_000001.11:g.169110582_169110586dup, NC_000001.11:g.169110581_169110586dup, NC_000001.11:g.169110580_169110586dup, NC_000001.11:g.169110579_169110586dup, NC_000001.11:g.169110578_169110586dup, NC_000001.11:g.169110577_169110586dup, NC_000001.11:g.169110576_169110586dup, NC_000001.11:g.169110574_169110586dup, NC_000001.11:g.169110570_169110586dup, NC_000001.11:g.169110568_169110586dup, NC_000001.11:g.169110586_169110587insTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.169079816_169079824del, NC_000001.10:g.169079818_169079824del, NC_000001.10:g.169079819_169079824del, NC_000001.10:g.169079820_169079824del, NC_000001.10:g.169079821_169079824del, NC_000001.10:g.169079822_169079824del, NC_000001.10:g.169079823_169079824del, NC_000001.10:g.169079824del, NC_000001.10:g.169079824dup, NC_000001.10:g.169079823_169079824dup, NC_000001.10:g.169079822_169079824dup, NC_000001.10:g.169079821_169079824dup, NC_000001.10:g.169079820_169079824dup, NC_000001.10:g.169079819_169079824dup, NC_000001.10:g.169079818_169079824dup, NC_000001.10:g.169079817_169079824dup, NC_000001.10:g.169079816_169079824dup, NC_000001.10:g.169079815_169079824dup, NC_000001.10:g.169079814_169079824dup, NC_000001.10:g.169079812_169079824dup, NC_000001.10:g.169079808_169079824dup, NC_000001.10:g.169079806_169079824dup, NC_000001.10:g.169079824_169079825insTTTTTTTTTTTTTTTTTTTT, NG_023230.1:g.8870_8878del, NG_023230.1:g.8872_8878del, NG_023230.1:g.8873_8878del, NG_023230.1:g.8874_8878del, NG_023230.1:g.8875_8878del, NG_023230.1:g.8876_8878del, NG_023230.1:g.8877_8878del, NG_023230.1:g.8878del, NG_023230.1:g.8878dup, NG_023230.1:g.8877_8878dup, NG_023230.1:g.8876_8878dup, NG_023230.1:g.8875_8878dup, NG_023230.1:g.8874_8878dup, NG_023230.1:g.8873_8878dup, NG_023230.1:g.8872_8878dup, NG_023230.1:g.8871_8878dup, NG_023230.1:g.8870_8878dup, NG_023230.1:g.8869_8878dup, NG_023230.1:g.8868_8878dup, NG_023230.1:g.8866_8878dup, NG_023230.1:g.8862_8878dup, NG_023230.1:g.8860_8878dup, NG_023230.1:g.8878_8879insTTTTTTTTTTTTTTTTTTTT

        4.

        rs1491293587 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->ATGT [Show Flanks]
          Chromosome:
          1:169133081 (GRCh38)
          1:169102320 (GRCh37)
          Canonical SPDI:
          NC_000001.11:169133081:TATGT:TATGTATGT
          Gene:
          ATP1B1 (Varview), NME7 (Varview)
          Functional Consequence:
          500B_downstream_variant,intron_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TATGTATGT=0./0 (ALFA)
          TATG=0.000004/1 (TOPMED)
          TATG=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1491276263 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            >
            Chromosome:
            no mapping
            Canonical SPDI:

            6.

            rs1491239400 has merged into rs57542049 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              1:169130789 (GRCh38)
              1:169100027 (GRCh37)
              Canonical SPDI:
              NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              ATP1B1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAA=0./0 (ALFA)
              HGVS:
              NC_000001.11:g.169130789_169130807del, NC_000001.11:g.169130791_169130807del, NC_000001.11:g.169130793_169130807del, NC_000001.11:g.169130794_169130807del, NC_000001.11:g.169130795_169130807del, NC_000001.11:g.169130796_169130807del, NC_000001.11:g.169130797_169130807del, NC_000001.11:g.169130798_169130807del, NC_000001.11:g.169130799_169130807del, NC_000001.11:g.169130800_169130807del, NC_000001.11:g.169130801_169130807del, NC_000001.11:g.169130802_169130807del, NC_000001.11:g.169130803_169130807del, NC_000001.11:g.169130804_169130807del, NC_000001.11:g.169130805_169130807del, NC_000001.11:g.169130806_169130807del, NC_000001.11:g.169130807del, NC_000001.11:g.169130807dup, NC_000001.11:g.169130806_169130807dup, NC_000001.11:g.169130805_169130807dup, NC_000001.11:g.169130804_169130807dup, NC_000001.11:g.169130803_169130807dup, NC_000001.11:g.169130802_169130807dup, NC_000001.11:g.169130801_169130807dup, NC_000001.11:g.169130800_169130807dup, NC_000001.11:g.169130799_169130807dup, NC_000001.10:g.169100027_169100045del, NC_000001.10:g.169100029_169100045del, NC_000001.10:g.169100031_169100045del, NC_000001.10:g.169100032_169100045del, NC_000001.10:g.169100033_169100045del, NC_000001.10:g.169100034_169100045del, NC_000001.10:g.169100035_169100045del, NC_000001.10:g.169100036_169100045del, NC_000001.10:g.169100037_169100045del, NC_000001.10:g.169100038_169100045del, NC_000001.10:g.169100039_169100045del, NC_000001.10:g.169100040_169100045del, NC_000001.10:g.169100041_169100045del, NC_000001.10:g.169100042_169100045del, NC_000001.10:g.169100043_169100045del, NC_000001.10:g.169100044_169100045del, NC_000001.10:g.169100045del, NC_000001.10:g.169100045dup, NC_000001.10:g.169100044_169100045dup, NC_000001.10:g.169100043_169100045dup, NC_000001.10:g.169100042_169100045dup, NC_000001.10:g.169100041_169100045dup, NC_000001.10:g.169100040_169100045dup, NC_000001.10:g.169100039_169100045dup, NC_000001.10:g.169100038_169100045dup, NC_000001.10:g.169100037_169100045dup, NG_051763.1:g.242166_242184del, NG_051763.1:g.242168_242184del, NG_051763.1:g.242170_242184del, NG_051763.1:g.242171_242184del, NG_051763.1:g.242172_242184del, NG_051763.1:g.242173_242184del, NG_051763.1:g.242174_242184del, NG_051763.1:g.242175_242184del, NG_051763.1:g.242176_242184del, NG_051763.1:g.242177_242184del, NG_051763.1:g.242178_242184del, NG_051763.1:g.242179_242184del, NG_051763.1:g.242180_242184del, NG_051763.1:g.242181_242184del, NG_051763.1:g.242182_242184del, NG_051763.1:g.242183_242184del, NG_051763.1:g.242184del, NG_051763.1:g.242184dup, NG_051763.1:g.242183_242184dup, NG_051763.1:g.242182_242184dup, NG_051763.1:g.242181_242184dup, NG_051763.1:g.242180_242184dup, NG_051763.1:g.242179_242184dup, NG_051763.1:g.242178_242184dup, NG_051763.1:g.242177_242184dup, NG_051763.1:g.242176_242184dup, NG_023230.1:g.29081_29099del, NG_023230.1:g.29083_29099del, NG_023230.1:g.29085_29099del, NG_023230.1:g.29086_29099del, NG_023230.1:g.29087_29099del, NG_023230.1:g.29088_29099del, NG_023230.1:g.29089_29099del, NG_023230.1:g.29090_29099del, NG_023230.1:g.29091_29099del, NG_023230.1:g.29092_29099del, NG_023230.1:g.29093_29099del, NG_023230.1:g.29094_29099del, NG_023230.1:g.29095_29099del, NG_023230.1:g.29096_29099del, NG_023230.1:g.29097_29099del, NG_023230.1:g.29098_29099del, NG_023230.1:g.29099del, NG_023230.1:g.29099dup, NG_023230.1:g.29098_29099dup, NG_023230.1:g.29097_29099dup, NG_023230.1:g.29096_29099dup, NG_023230.1:g.29095_29099dup, NG_023230.1:g.29094_29099dup, NG_023230.1:g.29093_29099dup, NG_023230.1:g.29092_29099dup, NG_023230.1:g.29091_29099dup

              7.

              rs1491056552 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->T [Show Flanks]
                Chromosome:
                1:169106618 (GRCh38)
                1:169075857 (GRCh37)
                Canonical SPDI:
                NC_000001.11:169106618::T
                Gene:
                ATP1B1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency
                MAF:
                T=0.00001/1 (GnomAD)
                HGVS:

                8.

                rs1491013988 has merged into rs113576501 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AA>-,A,AAA,AAAA [Show Flanks]
                  Chromosome:
                  1:169108101 (GRCh38)
                  1:169077339 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:169108093:AAAAAAAAA:AAAAAAA,NC_000001.11:169108093:AAAAAAAAA:AAAAAAAA,NC_000001.11:169108093:AAAAAAAAA:AAAAAAAAAA,NC_000001.11:169108093:AAAAAAAAA:AAAAAAAAAAA
                  Gene:
                  ATP1B1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAA=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  A=0.089857/1506 (TOMMO)
                  A=0.105/63 (NorthernSweden)
                  A=0.139968/519 (TWINSUK)
                  A=0.141283/141 (GoNL)
                  A=0.146601/565 (ALSPAC)
                  A=0.15/6 (GENOME_DK)
                  A=0.151786/680 (Estonian)
                  A=0.177716/890 (1000Genomes)
                  HGVS:

                  9.

                  rs1490954679 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:169120991 (GRCh38)
                    1:169090229 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:169120990:A:G
                    Gene:
                    ATP1B1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000008/1 (GnomAD)
                    HGVS:

                    10.

                    rs1490903550 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:169123193 (GRCh38)
                      1:169092431 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:169123192:G:A
                      Gene:
                      ATP1B1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000036/5 (GnomAD)
                      A=0.000083/22 (TOPMED)
                      HGVS:

                      11.

                      rs1490816188 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        1:169131075 (GRCh38)
                        1:169100313 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:169131074:C:G
                        Gene:
                        ATP1B1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000008/2 (TOPMED)
                        G=0.000319/5 (TOMMO)
                        G=0.001092/2 (Korea1K)
                        G=0.001711/5 (KOREAN)
                        HGVS:

                        12.

                        rs1490787425 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:169116260 (GRCh38)
                          1:169085498 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:169116259:A:G
                          Gene:
                          ATP1B1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490772909 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            1:169115408 (GRCh38)
                            1:169084646 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:169115407:G:C
                            Gene:
                            ATP1B1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000015/4 (TOPMED)
                            HGVS:

                            14.

                            rs1490514708 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:169132442 (GRCh38)
                              1:169101680 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:169132441:A:G
                              Gene:
                              ATP1B1 (Varview), NME7 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              G=0.000106/2 (TOMMO)
                              HGVS:

                              15.

                              rs1490297786 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:169115924 (GRCh38)
                                1:169085162 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:169115923:G:A
                                Gene:
                                ATP1B1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1489888153 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:169106379 (GRCh38)
                                  1:169075617 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:169106378:C:T
                                  Gene:
                                  ATP1B1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1489711526 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    1:169107523 (GRCh38)
                                    1:169076761 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:169107522:T:A
                                    Gene:
                                    ATP1B1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1489587751 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:169109988 (GRCh38)
                                      1:169079226 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:169109987:G:A
                                      Gene:
                                      ATP1B1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1489350038 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        1:169122218 (GRCh38)
                                        1:169091456 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:169122217:C:G,NC_000001.11:169122217:C:T
                                        Gene:
                                        ATP1B1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        T=0.000546/1 (Korea1K)
                                        HGVS:

                                        20.

                                        rs1489243171 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CTTT>- [Show Flanks]
                                          Chromosome:
                                          1:169120950 (GRCh38)
                                          1:169090188 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:169120946:TTTCTTT:TTT
                                          Gene:
                                          ATP1B1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          TTT=0./0 (ALFA)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...