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Items: 1 to 20 of 6169

1.

rs1491507670 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CTGTGTGT [Show Flanks]
    Chromosome:
    3:150611005 (GRCh38)
    3:150328793 (GRCh37)
    Canonical SPDI:
    NC_000003.12:150611005:TGTGTGT:TGTGTGTCTGTGTGT
    Gene:
    SELENOT (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TGTGTGTCTGTGTGT=0./0 (ALFA)
    TGTGTGTC=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1491449772 has merged into rs113532087 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
      Chromosome:
      3:150611019 (GRCh38)
      3:150328806 (GRCh37)
      Canonical SPDI:
      NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
      Gene:
      SELENOT (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GTGTGTGTGTGTGT=0./0 (ALFA)
      HGVS:
      NC_000003.12:g.150611005GT[7], NC_000003.12:g.150611005GT[8], NC_000003.12:g.150611005GT[9], NC_000003.12:g.150611005GT[10], NC_000003.12:g.150611005GT[11], NC_000003.12:g.150611005GT[12], NC_000003.12:g.150611005GT[13], NC_000003.12:g.150611005GT[14], NC_000003.12:g.150611005GT[15], NC_000003.12:g.150611005GT[17], NC_000003.12:g.150611005GT[18], NC_000003.12:g.150611005GT[19], NC_000003.12:g.150611005GT[20], NC_000003.12:g.150611005GT[21], NC_000003.12:g.150611005GT[22], NC_000003.12:g.150611005GT[23], NC_000003.12:g.150611005GT[24], NC_000003.12:g.150611005GT[25], NC_000003.12:g.150611005GT[26], NC_000003.12:g.150611005GT[27], NC_000003.11:g.150328792GT[7], NC_000003.11:g.150328792GT[8], NC_000003.11:g.150328792GT[9], NC_000003.11:g.150328792GT[10], NC_000003.11:g.150328792GT[11], NC_000003.11:g.150328792GT[12], NC_000003.11:g.150328792GT[13], NC_000003.11:g.150328792GT[14], NC_000003.11:g.150328792GT[15], NC_000003.11:g.150328792GT[17], NC_000003.11:g.150328792GT[18], NC_000003.11:g.150328792GT[19], NC_000003.11:g.150328792GT[20], NC_000003.11:g.150328792GT[21], NC_000003.11:g.150328792GT[22], NC_000003.11:g.150328792GT[23], NC_000003.11:g.150328792GT[24], NC_000003.11:g.150328792GT[25], NC_000003.11:g.150328792GT[26], NC_000003.11:g.150328792GT[27], NG_005531.4:g.1144AC[7], NG_005531.4:g.1144AC[8], NG_005531.4:g.1144AC[9], NG_005531.4:g.1144AC[10], NG_005531.4:g.1144AC[11], NG_005531.4:g.1144AC[12], NG_005531.4:g.1144AC[13], NG_005531.4:g.1144AC[14], NG_005531.4:g.1144AC[15], NG_005531.4:g.1144AC[17], NG_005531.4:g.1144AC[18], NG_005531.4:g.1144AC[19], NG_005531.4:g.1144AC[20], NG_005531.4:g.1144AC[21], NG_005531.4:g.1144AC[22], NG_005531.4:g.1144AC[23], NG_005531.4:g.1144AC[24], NG_005531.4:g.1144AC[25], NG_005531.4:g.1144AC[26], NG_005531.4:g.1144AC[27]
      3.

      rs1491428325 has merged into rs78544518 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>-,T,TTT,TTTT [Show Flanks]
        Chromosome:
        3:150627910 (GRCh38)
        3:150345697 (GRCh37)
        Canonical SPDI:
        NC_000003.12:150627901:TTTTTTTTTT:TTTTTTTT,NC_000003.12:150627901:TTTTTTTTTT:TTTTTTTTT,NC_000003.12:150627901:TTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:150627901:TTTTTTTTTT:TTTTTTTTTTTT
        Gene:
        SELENOT (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTT=0./0 (ALFA)
        -=0.000008/2 (TOPMED)
        T=0.00006/1 (TOMMO)
        HGVS:
        4.

        rs1491314251 has merged into rs761458301 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
          Chromosome:
          3:150619231 (GRCh38)
          3:150337018 (GRCh37)
          Canonical SPDI:
          NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
          Gene:
          SELENOT (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAA=0./0 (ALFA)
          A=0.425/17 (GENOME_DK)
          HGVS:
          5.

          rs1491129386 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            3:150627902 (GRCh38)
            3:150345690 (GRCh37)
            Canonical SPDI:
            NC_000003.12:150627902::G
            Gene:
            SELENOT (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000184/3 (ALFA)
            G=0.000283/5 (TOMMO)
            G=0.000446/118 (TOPMED)
            G=0.000477/66 (GnomAD)
            G=0.000546/1 (Korea1K)
            G=0.001093/7 (1000Genomes)
            HGVS:
            6.

            rs1491059186 has merged into rs35489270 [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,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              3:150621624 (GRCh38)
              3:150339411 (GRCh37)
              Canonical SPDI:
              NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              SELENOT (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTT=0./0 (ALFA)
              HGVS:
              NC_000003.12:g.150621624_150621636del, NC_000003.12:g.150621625_150621636del, NC_000003.12:g.150621626_150621636del, NC_000003.12:g.150621627_150621636del, NC_000003.12:g.150621628_150621636del, NC_000003.12:g.150621629_150621636del, NC_000003.12:g.150621630_150621636del, NC_000003.12:g.150621631_150621636del, NC_000003.12:g.150621632_150621636del, NC_000003.12:g.150621633_150621636del, NC_000003.12:g.150621634_150621636del, NC_000003.12:g.150621635_150621636del, NC_000003.12:g.150621636del, NC_000003.12:g.150621636dup, NC_000003.12:g.150621635_150621636dup, NC_000003.12:g.150621634_150621636dup, NC_000003.12:g.150621633_150621636dup, NC_000003.12:g.150621632_150621636dup, NC_000003.12:g.150621631_150621636dup, NC_000003.12:g.150621630_150621636dup, NC_000003.12:g.150621629_150621636dup, NC_000003.12:g.150621628_150621636dup, NC_000003.12:g.150621627_150621636dup, NC_000003.12:g.150621626_150621636dup, NC_000003.12:g.150621625_150621636dup, NC_000003.12:g.150621620_150621636dup, NC_000003.12:g.150621618_150621636dup, NC_000003.12:g.150621636_150621637insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.150621615_150621636T[45]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.150621636_150621637insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.150621636_150621637insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.150621636_150621637insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.150621636_150621637insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.150339411_150339423del, NC_000003.11:g.150339412_150339423del, NC_000003.11:g.150339413_150339423del, NC_000003.11:g.150339414_150339423del, NC_000003.11:g.150339415_150339423del, NC_000003.11:g.150339416_150339423del, NC_000003.11:g.150339417_150339423del, NC_000003.11:g.150339418_150339423del, NC_000003.11:g.150339419_150339423del, NC_000003.11:g.150339420_150339423del, NC_000003.11:g.150339421_150339423del, NC_000003.11:g.150339422_150339423del, NC_000003.11:g.150339423del, NC_000003.11:g.150339423dup, NC_000003.11:g.150339422_150339423dup, NC_000003.11:g.150339421_150339423dup, NC_000003.11:g.150339420_150339423dup, NC_000003.11:g.150339419_150339423dup, NC_000003.11:g.150339418_150339423dup, NC_000003.11:g.150339417_150339423dup, NC_000003.11:g.150339416_150339423dup, NC_000003.11:g.150339415_150339423dup, NC_000003.11:g.150339414_150339423dup, NC_000003.11:g.150339413_150339423dup, NC_000003.11:g.150339412_150339423dup, NC_000003.11:g.150339407_150339423dup, NC_000003.11:g.150339405_150339423dup, NC_000003.11:g.150339423_150339424insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.150339402_150339423T[45]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.150339423_150339424insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.150339423_150339424insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.150339423_150339424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.150339423_150339424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              7.

              rs1491051097 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AT>- [Show Flanks]
                Chromosome:
                3:150611037 (GRCh38)
                3:150328824 (GRCh37)
                Canonical SPDI:
                NC_000003.12:150611035:TAT:T
                Gene:
                SELENOT (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000169/2 (ALFA)
                -=0.000079/11 (GnomAD)
                HGVS:
                8.

                rs1491047480 has merged into rs34182257 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TT>-,T,TTT,TTTT [Show Flanks]
                  Chromosome:
                  3:150630887 (GRCh38)
                  3:150348674 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:150630876:TTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:150630876:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:150630876:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:150630876:TTTTTTTTTTTT:TTTTTTTTTTTTTT
                  Gene:
                  SELENOT (Varview)
                  Functional Consequence:
                  500B_downstream_variant,downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTTTT=0.00039/2 (ALFA)
                  T=0.00025/4 (TOMMO)
                  T=0.14011/540 (ALSPAC)
                  T=0.1459/541 (TWINSUK)
                  T=0.17261/837 (1000Genomes)
                  HGVS:
                  9.

                  rs1491018836 has merged into rs34698339 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    3:150625884 (GRCh38)
                    3:150343671 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    SELENOT (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTTTTTT=0./0 (ALFA)
                    -=0.386/1933 (1000Genomes)
                    HGVS:
                    NC_000003.12:g.150625884_150625887del, NC_000003.12:g.150625885_150625887del, NC_000003.12:g.150625886_150625887del, NC_000003.12:g.150625887del, NC_000003.12:g.150625887dup, NC_000003.12:g.150625886_150625887dup, NC_000003.12:g.150625885_150625887dup, NC_000003.12:g.150625884_150625887dup, NC_000003.12:g.150625883_150625887dup, NC_000003.12:g.150625882_150625887dup, NC_000003.12:g.150625880_150625887dup, NC_000003.11:g.150343671_150343674del, NC_000003.11:g.150343672_150343674del, NC_000003.11:g.150343673_150343674del, NC_000003.11:g.150343674del, NC_000003.11:g.150343674dup, NC_000003.11:g.150343673_150343674dup, NC_000003.11:g.150343672_150343674dup, NC_000003.11:g.150343671_150343674dup, NC_000003.11:g.150343670_150343674dup, NC_000003.11:g.150343669_150343674dup, NC_000003.11:g.150343667_150343674dup
                    10.

                    rs1491004815 has merged into rs10663245 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CT>-,CTCT [Show Flanks]
                      Chromosome:
                      3:150623599 (GRCh38)
                      3:150341386 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:150623592:CTCTCTCT:CTCTCT,NC_000003.12:150623592:CTCTCTCT:CTCTCTCTCT
                      Gene:
                      SELENOT (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CTCTCTCT=0.00022/1 (ALFA)
                      CT=0./0 (ALSPAC)
                      CT=0./0 (GENOME_DK)
                      CT=0./0 (GoNL)
                      CT=0./0 (Korea1K)
                      CT=0./0 (NorthernSweden)
                      CT=0./0 (TWINSUK)
                      CT=0.00022/1 (Estonian)
                      CT=0.9998/5007 (1000Genomes)
                      CT=0.99988/16758 (TOMMO)
                      HGVS:
                      11.

                      rs1490989547 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        3:150609753 (GRCh38)
                        3:150327540 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:150609752:C:G
                        Gene:
                        SELENOT (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:
                        12.

                        rs1490974167 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          3:150609385 (GRCh38)
                          3:150327172 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:150609384:T:C
                          Gene:
                          SELENOT (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          C=0.000021/3 (GnomAD)
                          C=0.000283/5 (TOMMO)
                          C=0.000546/1 (Korea1K)
                          HGVS:
                          13.

                          rs1490929986 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:150624525 (GRCh38)
                            3:150342312 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:150624524:A:G
                            Gene:
                            SELENOT (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1490389968 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:150615912 (GRCh38)
                              3:150333699 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:150615911:A:G
                              Gene:
                              SELENOT (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490201688 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:150616449 (GRCh38)
                                3:150334236 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:150616448:C:T
                                Gene:
                                SELENOT (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000015/2 (GnomAD)
                                T=0.000312/2 (1000Genomes)
                                HGVS:
                                16.

                                rs1490188833 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  3:150605422 (GRCh38)
                                  3:150323209 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:150605421:GGG:GG
                                  Gene:
                                  SELENOT (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GG=0.000071/1 (ALFA)
                                  -=0.000011/3 (TOPMED)
                                  -=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490127979 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    3:150608419 (GRCh38)
                                    3:150326206 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:150608418:A:G
                                    Gene:
                                    SELENOT (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490112024 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      3:150623828 (GRCh38)
                                      3:150341615 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:150623827:T:C
                                      Gene:
                                      SELENOT (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490044039 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        3:150627557 (GRCh38)
                                        3:150345344 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:150627556:G:A,NC_000003.12:150627556:G:T
                                        Gene:
                                        SELENOT (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000156/1 (1000Genomes)
                                        T=0.000743/12 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1489970506 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          3:150621767 (GRCh38)
                                          3:150339554 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:150621766:G:A
                                          Gene:
                                          SELENOT (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:

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