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Links from Nucleotide

Items: 1 to 20 of 546

1.

rs1490417269 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    4:8950444 (GRCh38)
    4:8952170 (GRCh37)
    Canonical SPDI:
    NC_000004.12:8950443:T:C,NC_000004.12:8950443:T:G
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000016/2 (GnomAD_exomes)
    HGVS:
    2.

    rs1489301678 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      4:8950110 (GRCh38)
      4:8951836 (GRCh37)
      Canonical SPDI:
      NC_000004.12:8950109:G:A,NC_000004.12:8950109:G:T
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      A=0.000006/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1488953568 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        4:8950451 (GRCh38)
        4:8952177 (GRCh37)
        Canonical SPDI:
        NC_000004.12:8950450:C:T
        HGVS:
        4.

        rs1488566568 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          4:8950324 (GRCh38)
          4:8952050 (GRCh37)
          Canonical SPDI:
          NC_000004.12:8950323:A:G
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          HGVS:
          5.

          rs1487968258 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            4:8950193 (GRCh38)
            4:8951919 (GRCh37)
            Canonical SPDI:
            NC_000004.12:8950192:C:G
            Validated:
            by frequency
            MAF:
            G=0.000013/2 (GnomAD_exomes)
            HGVS:
            6.

            rs1483879204 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              4:8950254 (GRCh38)
              4:8951980 (GRCh37)
              Canonical SPDI:
              NC_000004.12:8950253:C:A,NC_000004.12:8950253:C:T
              Validated:
              by frequency
              MAF:
              A=0.000006/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1483040150 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                4:8950518 (GRCh38)
                4:8952244 (GRCh37)
                Canonical SPDI:
                NC_000004.12:8950517:C:A
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000208/3 (ALFA)
                A=0.000108/15 (GnomAD)
                A=0.00011/29 (TOPMED)
                HGVS:
                8.

                rs1480520282 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  4:8949693 (GRCh38)
                  4:8951419 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:8949692:A:C
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1479765470 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    4:8950125 (GRCh38)
                    4:8951851 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:8950124:G:A
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1479519976 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      TGCACAGTTGGATTGTGTTACAATT>- [Show Flanks]
                      Chromosome:
                      4:8950124 (GRCh38)
                      4:8951850 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:8950123:TGCACAGTTGGATTGTGTTACAATT:
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000013/2 (GnomAD_exomes)
                      -=0.000019/5 (TOPMED)
                      -=0.000036/5 (GnomAD)
                      HGVS:
                      11.

                      rs1478090729 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        4:8950389 (GRCh38)
                        4:8952115 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:8950388:A:T
                        HGVS:
                        12.

                        rs1477798101 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          4:8950131 (GRCh38)
                          4:8951857 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:8950130:T:C
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000015/4 (TOPMED)
                          C=0.000052/8 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1473130718 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            4:8949802 (GRCh38)
                            4:8951528 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:8949801:T:C
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1472515118 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              4:8949694 (GRCh38)
                              4:8951420 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:8949693:C:T
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000224/1 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1472365860 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                4:8949972 (GRCh38)
                                4:8951698 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:8949971:T:G
                                Validated:
                                by frequency,by cluster
                                MAF:
                                G=0.000006/1 (GnomAD_exomes)
                                G=0.00463/1 (Vietnamese)
                                HGVS:
                                16.

                                rs1471645833 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G,T [Show Flanks]
                                  Chromosome:
                                  4:8950307 (GRCh38)
                                  4:8952033 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:8950306:A:G,NC_000004.12:8950306:A:T
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000071/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1470718262 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    4:8949523 (GRCh38)
                                    4:8951249 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:8949522:C:A
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1469335892 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      4:8950337 (GRCh38)
                                      4:8952063 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:8950336:C:A
                                      HGVS:
                                      19.

                                      rs1467433794 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        4:8950161 (GRCh38)
                                        4:8951887 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:8950160:G:C
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1467033398 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          4:8950361 (GRCh38)
                                          4:8952087 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:8950360:C:G
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000007/1 (GnomAD_exomes)
                                          HGVS:

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