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Links from Nucleotide

Items: 1 to 20 of 66

1.

rs1482305103 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:37330764 (GRCh38)
    1:37796365 (GRCh37)
    Canonical SPDI:
    NC_000001.11:37330763:C:T
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000014/2 (GnomAD)
    T=0.000019/5 (TOPMED)
    HGVS:
    2.

    rs1464326474 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:37330968 (GRCh38)
      1:37796569 (GRCh37)
      Canonical SPDI:
      NC_000001.11:37330967:C:T
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      3.

      rs1454175829 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:37330983 (GRCh38)
        1:37796584 (GRCh37)
        Canonical SPDI:
        NC_000001.11:37330982:C:T
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000015/4 (TOPMED)
        T=0.000021/3 (GnomAD)
        T=0.000142/2 (TOMMO)
        T=0.000342/1 (KOREAN)
        T=0.000546/1 (Korea1K)
        HGVS:
        4.

        rs1453823608 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          1:37330773 (GRCh38)
          1:37796374 (GRCh37)
          Canonical SPDI:
          NC_000001.11:37330772:T:C
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000224/1 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000223/1 (Estonian)
          HGVS:
          5.

          rs1442970759 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:37331005 (GRCh38)
            1:37796606 (GRCh37)
            Canonical SPDI:
            NC_000001.11:37331004:T:C
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1438927278 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              1:37331078 (GRCh38)
              1:37796679 (GRCh37)
              Canonical SPDI:
              NC_000001.11:37331077:A:T
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1435405201 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:37330991 (GRCh38)
                1:37796592 (GRCh37)
                Canonical SPDI:
                NC_000001.11:37330990:G:A
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                A=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1421415944 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  1:37330799 (GRCh38)
                  1:37796400 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:37330798:C:G
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1402802199 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:37330981 (GRCh38)
                    1:37796582 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:37330980:G:A
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1398288550 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:37330834 (GRCh38)
                      1:37796435 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:37330833:T:C
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1387332225 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:37331074 (GRCh38)
                        1:37796675 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:37331073:A:G
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.00011/2 (TOMMO)
                        HGVS:
                        12.

                        rs1374615267 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          1:37330965 (GRCh38)
                          1:37796566 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:37330964:G:T
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000014/2 (GnomAD)
                          T=0.000023/6 (TOPMED)
                          HGVS:
                          13.

                          rs1368934031 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            1:37330826 (GRCh38)
                            1:37796427 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:37330825:T:G
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1363772082 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              1:37330990 (GRCh38)
                              1:37796591 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:37330989:T:G
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000014/2 (GnomAD)
                              G=0.000015/4 (TOPMED)
                              HGVS:
                              15.

                              rs1340590905 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:37330846 (GRCh38)
                                1:37796447 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:37330845:A:G
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1333380453 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:37330839 (GRCh38)
                                  1:37796440 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:37330838:T:C
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000008/2 (TOPMED)
                                  C=0.000156/1 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1328145613 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:37330962 (GRCh38)
                                    1:37796563 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:37330961:T:C
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1316167780 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:37331042 (GRCh38)
                                      1:37796643 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:37331041:T:C
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1297238171 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        1:37330992 (GRCh38)
                                        1:37796593 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:37330991:T:A,NC_000001.11:37330991:T:C
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1295017296 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:37330893 (GRCh38)
                                          1:37796494 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:37330892:C:T
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000014/2 (GnomAD)
                                          T=0.000019/5 (TOPMED)
                                          HGVS:

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