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Links from Gene

Items: 1 to 20 of 1000

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.

    rs1489721219 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      4:8948675 (GRCh38)
      4:8950401 (GRCh37)
      Canonical SPDI:
      NC_000004.12:8948674:C:A,NC_000004.12:8948674:C:T
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      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:
        4.

        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:
          5.

          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:
            6.

            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:
              7.

              rs1487550229 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                4:8949018 (GRCh38)
                4:8950744 (GRCh37)
                Canonical SPDI:
                NC_000004.12:8949017:C:T
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1487004743 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  4:8948957 (GRCh38)
                  4:8950683 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:8948956:C:A
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1485956839 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    4:8950793 (GRCh38)
                    4:8952519 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:8950792:C:G
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1483946063 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      4:8948370 (GRCh38)
                      4:8950096 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:8948369:C:T
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1483937762 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        4:8949310 (GRCh38)
                        4:8951036 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:8949309:G:C
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        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:
                          13.

                          rs1483609101 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            4:8948665 (GRCh38)
                            4:8950391 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:8948664:A:T
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1483287294 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              4:8947905 (GRCh38)
                              4:8949631 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:8947904:C:T
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              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:
                                16.

                                rs1482921538 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  4:8948898 (GRCh38)
                                  4:8950624 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:8948897:C:A,NC_000004.12:8948897:C:T
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1482788732 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    4:8948561 (GRCh38)
                                    4:8950287 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:8948560:A:G
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1482758446 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      4:8949098 (GRCh38)
                                      4:8950824 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:8949097:T:C
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1481822870 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        4:8947844 (GRCh38)
                                        4:8949570 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:8947843:C:T
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1481806933 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          4:8948326 (GRCh38)
                                          4:8950052 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:8948325:G:A
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000015/4 (TOPMED)
                                          HGVS:

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