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Links from Nucleotide

Items: 1 to 20 of 294

1.

rs1487422146 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    22:21142492 (GRCh38)
    22:21496781 (GRCh37)
    Canonical SPDI:
    NC_000022.11:21142491:C:T
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.00031/2 (1000Genomes)
    HGVS:
    2.

    rs1487000565 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      22:21142322 (GRCh38)
      22:21496611 (GRCh37)
      Canonical SPDI:
      NC_000022.11:21142321:G:A,NC_000022.11:21142321:G:C
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      HGVS:
      3.

      rs1486057432 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        22:21142386 (GRCh38)
        22:21496675 (GRCh37)
        Canonical SPDI:
        NC_000022.11:21142385:C:G,NC_000022.11:21142385:C:T
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        4.

        rs1485791283 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          GTTCAGACAT>-
          Chromosome:
          no mapping
          Canonical SPDI:
          5.

          rs1485349594 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            22:21142606 (GRCh38)
            22:21496895 (GRCh37)
            Canonical SPDI:
            NC_000022.11:21142605:G:T
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000066/9 (GnomAD)
            HGVS:
            6.

            rs1483408302 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              22:21141875 (GRCh38)
              22:21496164 (GRCh37)
              Canonical SPDI:
              NC_000022.11:21141874:C:G,NC_000022.11:21141874:C:T
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1482816970 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                22:21142473 (GRCh38)
                22:21496762 (GRCh37)
                Canonical SPDI:
                NC_000022.11:21142472:C:G
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                HGVS:
                8.

                rs1481774480 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  22:21142480 (GRCh38)
                  22:21496769 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:21142479:C:T
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1481301160 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    22:21140745 (GRCh38)
                    22:21495034 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:21140744:T:C
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.0016/7 (ALFA)
                    HGVS:
                    10.

                    rs1477722271 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      22:21142247 (GRCh38)
                      22:21496536 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:21142246:T:C
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1476843135 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        22:21142353 (GRCh38)
                        22:21496642 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:21142352:C:G
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.00008/1 (ALFA)
                        C=0./0 (SGDP_PRJ)
                        G=0.00002/2 (GnomAD)
                        G=0.00031/2 (1000Genomes)
                        HGVS:
                        12.

                        rs1476833598 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          22:21142735 (GRCh38)
                          22:21497024 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:21142734:C:A,NC_000022.11:21142734:C:T
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1476370969 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            22:21142104 (GRCh38)
                            22:21496393 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:21142103:G:T
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1475214879 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              22:21140367 (GRCh38)
                              22:21494656 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:21140366:G:A
                              HGVS:
                              15.

                              rs1475193561 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                22:21142515 (GRCh38)
                                22:21496804 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:21142514:G:A
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.00043/7 (ALFA)
                                HGVS:
                                16.

                                rs1474916631 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  22:21142692 (GRCh38)
                                  22:21496981 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:21142691:G:A
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  A=0.00003/8 (TOPMED)
                                  A=0.000937/6 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1471608649 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    22:21142524 (GRCh38)
                                    22:21496813 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:21142523:G:A,NC_000022.11:21142523:G:T
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000008/1 (GnomAD)
                                    A=0.000073/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1470797848 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C,T [Show Flanks]
                                      Chromosome:
                                      22:21142622 (GRCh38)
                                      22:21496911 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:21142621:G:A,NC_000022.11:21142621:G:C,NC_000022.11:21142621:G:T
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      A=0.000065/9 (GnomAD)
                                      A=0.000156/1 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs1470052213 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        22:21142722 (GRCh38)
                                        22:21497011 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:21142721:T:G
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.000084/1 (ALFA)
                                        G=0.000036/5 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1468589060 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          22:21142598 (GRCh38)
                                          22:21496887 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:21142597:A:C
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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