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Items: 1 to 20 of 7800

1.

rs1491535139 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    X:73820805 (GRCh38)
    X:73040640 (GRCh37)
    Canonical SPDI:
    NC_000023.11:73820801:AGAGA:AGA
    Gene:
    XIST (Varview), TSIX (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AGA=0./0 (ALFA)
    -=0.000006/1 (GnomAD_exomes)
    -=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1491443284 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TT>- [Show Flanks]
      Chromosome:
      X:73792681 (GRCh38)
      X:73012516 (GRCh37)
      Canonical SPDI:
      NC_000023.11:73792678:TTTT:TT
      Gene:
      TSIX (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTT=0./0 (ALFA)
      -=0.00009/1 (TOMMO)
      -=0.00021/1 (1000Genomes)
      HGVS:
      3.

      rs1491109865 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->T [Show Flanks]
        Chromosome:
        X:73820802 (GRCh38)
        X:73040638 (GRCh37)
        Canonical SPDI:
        NC_000023.11:73820802::T
        Gene:
        XIST (Varview), TSIX (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        T=0.000006/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1490975787 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          X:73817106 (GRCh38)
          X:73036941 (GRCh37)
          Canonical SPDI:
          NC_000023.11:73817105:G:A
          Gene:
          TSIX (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0.000142/2 (ALFA)
          A=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490684476 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            X:73818630 (GRCh38)
            X:73038465 (GRCh37)
            Canonical SPDI:
            NC_000023.11:73818629:G:A,NC_000023.11:73818629:G:T
            Gene:
            TSIX (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0.000019/2 (GnomAD)
            HGVS:
            6.

            rs1490597937 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              G>- [Show Flanks]
              Chromosome:
              X:73790724 (GRCh38)
              X:73010559 (GRCh37)
              Canonical SPDI:
              NC_000023.11:73790723:G:
              Gene:
              TSIX (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0.000071/1 (ALFA)
              -=0.000029/3 (GnomAD)
              -=0.000034/9 (TOPMED)
              HGVS:
              7.

              rs1490520604 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->C [Show Flanks]
                Chromosome:
                X:73817721 (GRCh38)
                X:73037557 (GRCh37)
                Canonical SPDI:
                NC_000023.11:73817721:C:CC
                Gene:
                TSIX (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                CC=0./0 (ALFA)
                C=0.00002/2 (GnomAD)
                HGVS:
                8.

                rs1490468108 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  X:73807716 (GRCh38)
                  X:73027551 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:73807715:A:C
                  Gene:
                  TSIX (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000011/3 (TOPMED)
                  C=0.000019/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490435593 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    X:73827728 (GRCh38)
                    X:73047563 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:73827727:T:C
                    Gene:
                    XIST (Varview), TSIX (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490418032 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      X:73806568 (GRCh38)
                      X:73026403 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:73806567:T:A
                      Gene:
                      TSIX (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490309055 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        X:73807187 (GRCh38)
                        X:73027022 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:73807186:A:G
                        Gene:
                        TSIX (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.00001/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490307575 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          X:73828581 (GRCh38)
                          X:73048416 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:73828580:G:C
                          Gene:
                          XIST (Varview), TSIX (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          C=0.00001/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490274889 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ATCT>- [Show Flanks]
                            Chromosome:
                            X:73827024 (GRCh38)
                            X:73046859 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:73827016:TCTATCTATCT:TCTATCT
                            Gene:
                            XIST (Varview), TSIX (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TCTATCT=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490257275 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              X:73806071 (GRCh38)
                              X:73025906 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:73806070:A:G
                              Gene:
                              TSIX (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.00379/45 (ALFA)
                              HGVS:
                              15.

                              rs1489970767 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                X:73797009 (GRCh38)
                                X:73016844 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:73797008:T:C
                                Gene:
                                TSIX (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.00001/1 (GnomAD)
                                HGVS:
                                16.

                                rs1489890377 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TG>- [Show Flanks]
                                  Chromosome:
                                  X:73806905 (GRCh38)
                                  X:73026740 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:73806903:GTG:G
                                  Gene:
                                  TSIX (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  -=0.00001/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489689416 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    X:73814199 (GRCh38)
                                    X:73034034 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:73814198:T:C
                                    Gene:
                                    TSIX (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489608004 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      X:73817259 (GRCh38)
                                      X:73037094 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:73817258:G:T
                                      Gene:
                                      TSIX (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      T=0.00001/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489578382 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        X:73795351 (GRCh38)
                                        X:73015186 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:73795350:G:A
                                        Gene:
                                        TSIX (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.00001/1 (GnomAD)
                                        A=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489444135 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          X:73821991 (GRCh38)
                                          X:73041826 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:73821990:A:T
                                          Gene:
                                          XIST (Varview), TSIX (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0.000111/1 (ALFA)
                                          T=0.000006/1 (GnomAD_exomes)
                                          HGVS:

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