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Links from Nucleotide

Items: 1 to 20 of 136

1.

rs1490941850 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    X:49912246 (GRCh38)
    X:49676853 (GRCh37)
    Canonical SPDI:
    NC_000023.11:49912245:T:C
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.00001/1 (GnomAD)
    C=0.000011/3 (TOPMED)
    C=0.000045/1 (TOMMO)
    HGVS:
    2.

    rs1482565358 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      X:49911592 (GRCh38)
      X:49676199 (GRCh37)
      Canonical SPDI:
      NC_000023.11:49911591:G:A
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1479955873 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        X:49912425 (GRCh38)
        X:49677034 (GRCh37)
        Canonical SPDI:
        NC_000023.11:49912424:A:G
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000015/4 (TOPMED)
        G=0.00002/2 (GnomAD)
        HGVS:
        4.

        rs1475879878 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          X:49912213 (GRCh38)
          X:49676820 (GRCh37)
          Canonical SPDI:
          NC_000023.11:49912212:A:T
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000084/1 (ALFA)
          T=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1472172969 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            X:49911759 (GRCh38)
            X:49676366 (GRCh37)
            Canonical SPDI:
            NC_000023.11:49911758:C:T
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000019/5 (TOPMED)
            HGVS:
            6.

            rs1470352807 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              X:49911892 (GRCh38)
              X:49676499 (GRCh37)
              Canonical SPDI:
              NC_000023.11:49911891:C:A
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.00001/1 (GnomAD)
              HGVS:
              7.

              rs1464051617 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                X:49911691 (GRCh38)
                X:49676298 (GRCh37)
                Canonical SPDI:
                NC_000023.11:49911690:C:T
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.00001/1 (GnomAD)
                HGVS:
                8.

                rs1456410007 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  X:49911883 (GRCh38)
                  X:49676490 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:49911882:A:G
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1450855187 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:49911570 (GRCh38)
                    X:49676177 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:49911569:C:T
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.00001/1 (GnomAD)
                    T=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1447981335 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      X:49912069 (GRCh38)
                      X:49676676 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:49912068:C:T
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.00001/1 (GnomAD)
                      HGVS:
                      11.

                      rs1444750137 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        X:49911845 (GRCh38)
                        X:49676452 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:49911844:C:A,NC_000023.11:49911844:C:T
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000019/2 (GnomAD)
                        HGVS:
                        12.

                        rs1438349600 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:49911773 (GRCh38)
                          X:49676380 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:49911772:G:A
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000019/5 (TOPMED)
                          A=0.000029/3 (GnomAD)
                          HGVS:
                          13.

                          rs1433639651 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            X:49911959 (GRCh38)
                            X:49676566 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:49911958:C:A
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.00001/1 (GnomAD)
                            HGVS:
                            14.

                            rs1431122559 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              X:49911575 (GRCh38)
                              X:49676182 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:49911574:T:C
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.00001/1 (GnomAD)
                              HGVS:
                              15.

                              rs1429251776 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                X:49912166 (GRCh38)
                                X:49676773 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:49912165:G:A
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000285/4 (ALFA)
                                A=0.000144/15 (GnomAD)
                                A=0.000174/46 (TOPMED)
                                HGVS:
                                16.

                                rs1426253886 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  X:49912150 (GRCh38)
                                  X:49676757 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:49912149:T:C
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  C=0.00001/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1424808012 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    X:49912391 (GRCh38)
                                    X:49676998 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:49912390:A:G
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000015/4 (TOPMED)
                                    G=0.000019/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1410540664 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      X:49912385 (GRCh38)
                                      X:49676992 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:49912384:T:C
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      C=0.000019/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1409255808 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        X:49911887 (GRCh38)
                                        X:49676494 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:49911886:C:T
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1407956773 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          X:49912363 (GRCh38)
                                          X:49676970 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:49912362:C:T
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.00001/1 (GnomAD)
                                          HGVS:

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