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Links from Nucleotide

Items: 1 to 20 of 257

1.

rs1489446848 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    X:128128472 (GRCh38)
    X:127262450 (GRCh37)
    Canonical SPDI:
    NC_000023.11:128128471: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:
    2.

    rs1483483828 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      X:128127797 (GRCh38)
      X:127261775 (GRCh37)
      Canonical SPDI:
      NC_000023.11:128127796:G:T
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1482034247 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        X:128127254 (GRCh38)
        X:127261232 (GRCh37)
        Canonical SPDI:
        NC_000023.11:128127253:T:C
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        HGVS:
        4.

        rs1478703739 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          X:128127472 (GRCh38)
          X:127261450 (GRCh37)
          Canonical SPDI:
          NC_000023.11:128127471:T:C
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000019/2 (GnomAD)
          C=0.000042/11 (TOPMED)
          HGVS:
          5.

          rs1474354493 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            X:128127187 (GRCh38)
            X:127261165 (GRCh37)
            Canonical SPDI:
            NC_000023.11:128127186:T:C
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1474172258 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              X:128127643 (GRCh38)
              X:127261621 (GRCh37)
              Canonical SPDI:
              NC_000023.11:128127642:G:A
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.00001/1 (GnomAD)
              A=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1470498185 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                X:128127839 (GRCh38)
                X:127261817 (GRCh37)
                Canonical SPDI:
                NC_000023.11:128127838:C:A
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.00001/1 (GnomAD)
                HGVS:
                8.

                rs1469458476 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  X:128127369 (GRCh38)
                  X:127261347 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:128127368:A:T
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1465945265 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    T>- [Show Flanks]
                    Chromosome:
                    X:128127791 (GRCh38)
                    X:127261769 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:128127790:T:
                    HGVS:
                    10.

                    rs1461432865 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      X:128126945 (GRCh38)
                      X:127260923 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:128126944:G:A
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      A=0.000019/2 (GnomAD)
                      HGVS:
                      11.

                      rs1460000004 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C,T [Show Flanks]
                        Chromosome:
                        X:128127306 (GRCh38)
                        X:127261284 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:128127305:G:A,NC_000023.11:128127305:G:C,NC_000023.11:128127305:G:T
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        A=0.000048/5 (GnomAD)
                        HGVS:
                        12.

                        rs1455509664 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CTTCCCCAAAAT>- [Show Flanks]
                          Chromosome:
                          X:128128235 (GRCh38)
                          X:127262213 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:128128234:CTTCCCCAAAAT:
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          -=0.00001/1 (GnomAD)
                          HGVS:
                          13.

                          rs1450866157 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:128127769 (GRCh38)
                            X:127261747 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:128127768:G:A
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000142/2 (ALFA)
                            A=0.000015/4 (TOPMED)
                            A=0.000038/4 (GnomAD)
                            HGVS:
                            14.

                            rs1447458571 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              X:128127294 (GRCh38)
                              X:127261272 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:128127293:G:C
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1444932370 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                X:128127513 (GRCh38)
                                X:127261491 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:128127512:C:G,NC_000023.11:128127512:C:T
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000019/2 (GnomAD)
                                G=0.000019/5 (TOPMED)
                                T=0.000045/1 (TOMMO)
                                HGVS:
                                16.

                                rs1441693021 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  X:128127321 (GRCh38)
                                  X:127261299 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:128127320:A:G
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.000142/2 (ALFA)
                                  G=0.00001/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1440674881 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    X:128127881 (GRCh38)
                                    X:127261859 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:128127880:G:T
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000023/6 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1437670631 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      X:128127210 (GRCh38)
                                      X:127261188 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:128127209:C:T
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1432074008 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G [Show Flanks]
                                        Chromosome:
                                        X:128128163 (GRCh38)
                                        X:127262141 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:128128162:C:A,NC_000023.11:128128162:C:G
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1425187998 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          X:128127775 (GRCh38)
                                          X:127261753 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:128127774:G:A
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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