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Links from Nucleotide

Items: 1 to 20 of 756

1.

rs1490486162 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    22:18636290 (GRCh38)
    22:20486157 (GRCh37)
    Canonical SPDI:
    NC_000022.11:18636289:C:T
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    2.

    rs1488211637 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      22:18637477 (GRCh38)
      22:20487344 (GRCh37)
      Canonical SPDI:
      NC_000022.11:18637476:T:C
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1487401410 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        22:18638609 (GRCh38)
        22:20488476 (GRCh37)
        Canonical SPDI:
        NC_000022.11:18638608:G:A,NC_000022.11:18638608:G:C
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        A=0.00009/8 (GnomAD)
        HGVS:
        4.

        rs1486933113 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          22:18637587 (GRCh38)
          22:20487454 (GRCh37)
          Canonical SPDI:
          NC_000022.11:18637586:G:A,NC_000022.11:18637586:G:T
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          5.

          rs1486321419 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            22:18639134 (GRCh38)
            22:20489001 (GRCh37)
            Canonical SPDI:
            NC_000022.11:18639133:G:A
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1486268886 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              22:18638363 (GRCh38)
              22:20488230 (GRCh37)
              Canonical SPDI:
              NC_000022.11:18638362:C:T
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1486072938 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                22:18638673 (GRCh38)
                22:20488540 (GRCh37)
                Canonical SPDI:
                NC_000022.11:18638672:T:C
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                HGVS:
                8.

                rs1485955633 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  22:18637117 (GRCh38)
                  22:20486984 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:18637116:C:T
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.000084/1 (ALFA)
                  T=0.000059/8 (GnomAD)
                  HGVS:
                  9.

                  rs1485729122 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    22:18638830 (GRCh38)
                    22:20488697 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:18638829:C:T
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.00005/7 (GnomAD)
                    HGVS:
                    10.

                    rs1485443746 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      22:18636939 (GRCh38)
                      22:20486806 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:18636938:C:T
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000337/4 (ALFA)
                      T=0.000226/24 (GnomAD)
                      T=0.000625/4 (1000Genomes)
                      HGVS:
                      11.

                      rs1484975896 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        T>G
                        Chromosome:
                        no mapping
                        Canonical SPDI:
                        12.

                        rs1484689659 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AGTC>- [Show Flanks]
                          Chromosome:
                          22:18638814 (GRCh38)
                          22:20488681 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:18638808:CAGTCAGTC:CAGTC
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          CAGTC=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1484168036 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            22:18638736 (GRCh38)
                            22:20488603 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:18638735:G:A
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.00031/2 (1000Genomes)
                            HGVS:
                            14.

                            rs1484118647 has merged into rs1258507624 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CC>-,C,CCC,CCCC,CCCCCCCC,CCCCCCCCC [Show Flanks]
                              Chromosome:
                              22:18637555 (GRCh38)
                              22:20487422 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:18637546:CCCCCCCCCC:CCCCCCCC,NC_000022.11:18637546:CCCCCCCCCC:CCCCCCCCC,NC_000022.11:18637546:CCCCCCCCCC:CCCCCCCCCCC,NC_000022.11:18637546:CCCCCCCCCC:CCCCCCCCCCCC,NC_000022.11:18637546:CCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000022.11:18637546:CCCCCCCCCC:CCCCCCCCCCCCCCCCC
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CCCCCCCCC=0./0 (ALFA)
                              -=0.0408/32 (Korea1K)
                              HGVS:
                              15.

                              rs1482675660 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                22:18636977 (GRCh38)
                                22:20486844 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:18636976:G:C
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1482286481 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  22:18637930 (GRCh38)
                                  22:20487797 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:18637929:G:A,NC_000022.11:18637929:G:C
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1481402774 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    22:18639011 (GRCh38)
                                    22:20488878 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:18639010:A:G
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0.00017/2 (ALFA)
                                    HGVS:
                                    18.

                                    rs1481227427 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      22:18639284 (GRCh38)
                                      22:20489151 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:18639283:T:C
                                      HGVS:
                                      19.

                                      rs1480319184 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        22:18636606 (GRCh38)
                                        22:20486473 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:18636605:C:G,NC_000022.11:18636605:C:T
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        C=0.25/1 (SGDP_PRJ)
                                        HGVS:
                                        20.

                                        rs1480078476 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          22:18638824 (GRCh38)
                                          22:20488691 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:18638823:G:A
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          HGVS:

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