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Items: 1 to 20 of 4342

1.

rs1491400963 has merged into rs34322917 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    1:19674418 (GRCh38)
    1:20000911 (GRCh37)
    Canonical SPDI:
    NC_000001.11:19674406:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:19674406:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:19674406:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:19674406:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:19674406:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:19674406:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:19674406:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:19674406:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:19674406:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:19674406:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:19674406:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:19674406:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:19674406:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:19674406:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    HTR6 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTT=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.19674418_19674424del, NC_000001.11:g.19674420_19674424del, NC_000001.11:g.19674421_19674424del, NC_000001.11:g.19674422_19674424del, NC_000001.11:g.19674423_19674424del, NC_000001.11:g.19674424del, NC_000001.11:g.19674424dup, NC_000001.11:g.19674423_19674424dup, NC_000001.11:g.19674422_19674424dup, NC_000001.11:g.19674421_19674424dup, NC_000001.11:g.19674420_19674424dup, NC_000001.11:g.19674419_19674424dup, NC_000001.11:g.19674418_19674424dup, NC_000001.11:g.19674417_19674424dup, NC_000001.10:g.20000911_20000917del, NC_000001.10:g.20000913_20000917del, NC_000001.10:g.20000914_20000917del, NC_000001.10:g.20000915_20000917del, NC_000001.10:g.20000916_20000917del, NC_000001.10:g.20000917del, NC_000001.10:g.20000917dup, NC_000001.10:g.20000916_20000917dup, NC_000001.10:g.20000915_20000917dup, NC_000001.10:g.20000914_20000917dup, NC_000001.10:g.20000913_20000917dup, NC_000001.10:g.20000912_20000917dup, NC_000001.10:g.20000911_20000917dup, NC_000001.10:g.20000910_20000917dup
    2.

    rs1490896947 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:19675230 (GRCh38)
      1:20001723 (GRCh37)
      Canonical SPDI:
      NC_000001.11:19675229:G:A
      Gene:
      HTR6 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000021/3 (GnomAD)
      HGVS:
      3.

      rs1490755183 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:19673154 (GRCh38)
        1:19999647 (GRCh37)
        Canonical SPDI:
        NC_000001.11:19673153:T:C
        Gene:
        HTR6 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000008/2 (TOPMED)
        C=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1490575086 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:19665793 (GRCh38)
          1:19992286 (GRCh37)
          Canonical SPDI:
          NC_000001.11:19665792:G:A
          Gene:
          HTR6 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          HGVS:
          5.

          rs1490407708 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:19674746 (GRCh38)
            1:20001239 (GRCh37)
            Canonical SPDI:
            NC_000001.11:19674745:A:G
            Gene:
            HTR6 (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)
            HGVS:
            6.

            rs1490318841 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              1:19677565 (GRCh38)
              1:20004058 (GRCh37)
              Canonical SPDI:
              NC_000001.11:19677564:T:C
              Gene:
              HTR6 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000015/4 (TOPMED)
              C=0.000029/4 (GnomAD)
              HGVS:
              7.

              rs1489728824 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:19666049 (GRCh38)
                1:19992542 (GRCh37)
                Canonical SPDI:
                NC_000001.11:19666048:G:A
                Gene:
                HTR6 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                HGVS:
                8.

                rs1489492004 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:19670422 (GRCh38)
                  1:19996915 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:19670421:C:T
                  Gene:
                  HTR6 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489463892 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:19669402 (GRCh38)
                    1:19995895 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:19669401:C:T
                    Gene:
                    HTR6 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    T=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1489447347 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:19668473 (GRCh38)
                      1:19994966 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:19668472:G:A
                      Gene:
                      HTR6 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1489403437 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        1:19666349 (GRCh38)
                        1:19992842 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:19666348:T:A
                        Gene:
                        HTR6 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000111/1 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1489074014 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:19679065 (GRCh38)
                          1:20005558 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:19679064:T:C
                          Gene:
                          HTR6 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1488686049 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:19678226 (GRCh38)
                            1:20004719 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:19678225:G:A
                            Gene:
                            HTR6 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1488476924 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:19668824 (GRCh38)
                              1:19995317 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:19668823:A:G
                              Gene:
                              HTR6 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000019/5 (TOPMED)
                              HGVS:
                              15.

                              rs1488321185 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:19671711 (GRCh38)
                                1:19998204 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:19671710:G:A
                                Gene:
                                HTR6 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1487833232 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->A [Show Flanks]
                                  Chromosome:
                                  1:19667402 (GRCh38)
                                  1:19993896 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:19667402::A
                                  Gene:
                                  HTR6 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000026/7 (TOPMED)
                                  A=0.000029/4 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1487592069 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:19670536 (GRCh38)
                                    1:19997029 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:19670535:C:T
                                    Gene:
                                    HTR6 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1486674373 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:19664480 (GRCh38)
                                      1:19990973 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:19664479:T:C
                                      Gene:
                                      HTR6 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486376892 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        1:19673836 (GRCh38)
                                        1:20000329 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:19673835:A:C
                                        Gene:
                                        HTR6 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.0002/1 (ALFA)
                                        C=0.0002/1 (Estonian)
                                        HGVS:
                                        20.

                                        rs1486335399 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:19663779 (GRCh38)
                                          1:19990272 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:19663778:G:A
                                          Gene:
                                          HTR6 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/1 (GnomAD)
                                          HGVS:

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