U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 1 to 20 of 202

1.

rs1484935574 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    12:11179710 (GRCh38)
    12:11332308 (GRCh37)
    Canonical SPDI:
    NC_000012.12:11179709:G:A
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1483492616 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      12:11180223 (GRCh38)
      12:11332822 (GRCh37)
      Canonical SPDI:
      NC_000012.12:11180222:G:C
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000066/1 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000014/2 (GnomAD)
      C=0.000223/1 (Estonian)
      HGVS:
      3.

      rs1482622798 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        12:11179850 (GRCh38)
        12:11332448 (GRCh37)
        Canonical SPDI:
        NC_000012.12:11179849:T:C
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1480838407 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          12:11179858 (GRCh38)
          12:11332456 (GRCh37)
          Canonical SPDI:
          NC_000012.12:11179857:A:G
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000014/2 (GnomAD)
          G=0.000026/7 (TOPMED)
          HGVS:
          5.

          rs1479052475 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            12:11180252 (GRCh38)
            12:11332851 (GRCh37)
            Canonical SPDI:
            NC_000012.12:11180251:A:G
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1475743293 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              12:11179580 (GRCh38)
              12:11332178 (GRCh37)
              Canonical SPDI:
              NC_000012.12:11179579:T:A
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000011/3 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1474170121 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                12:11180250 (GRCh38)
                12:11332849 (GRCh37)
                Canonical SPDI:
                NC_000012.12:11180249:A:G
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1460651081 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  12:11179673 (GRCh38)
                  12:11332271 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:11179672:A:C,NC_000012.12:11179672:A:G
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  C=0.000342/1 (KOREAN)
                  HGVS:
                  9.

                  rs1457849882 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    12:11179731 (GRCh38)
                    12:11332329 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:11179730:A:G
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1454410150 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G [Show Flanks]
                      Chromosome:
                      12:11180431 (GRCh38)
                      12:11333030 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:11180430:A:C,NC_000012.12:11180430:A:G
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      C=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1453596123 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        12:11180487 (GRCh38)
                        12:11333086 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:11180486:C:T
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1448176524 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CC>- [Show Flanks]
                          Chromosome:
                          12:11180540 (GRCh38)
                          12:11333139 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:11180539:CC:
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1439667260 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            12:11179768 (GRCh38)
                            12:11332366 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:11179767:A:T
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1436449009 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->C [Show Flanks]
                              Chromosome:
                              12:11180134 (GRCh38)
                              12:-1 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:11180134::C
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              -=0.196213/3368 (ALFA)
                              -=0.222205/1423 (1000Genomes)
                              -=0.227263/6422 (TOMMO)
                              -=0.234421/62049 (TOPMED)
                              -=0.239057/33456 (GnomAD)
                              HGVS:
                              15.

                              rs1430793022 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                12:11179695 (GRCh38)
                                12:11332293 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:11179694:C:T
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1428454987 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C,G [Show Flanks]
                                  Chromosome:
                                  12:11180283 (GRCh38)
                                  12:11332882 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:11180282:T:C,NC_000012.12:11180282:T:G
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1428064726 has merged into rs966175340 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    A>-,AA [Show Flanks]
                                    Chromosome:
                                    12:11179656 (GRCh38)
                                    12:11332254 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:11179655:AAAAAAA:AAAAAA,NC_000012.12:11179655:AAAAAAA:AAAAAAAA
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAAAAAAA=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1427316968 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      12:11179805 (GRCh38)
                                      12:11332403 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:11179804:C:G,NC_000012.12:11179804:C:T
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000014/2 (GnomAD)
                                      T=0.000035/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1423217768 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        12:11179974 (GRCh38)
                                        12:11332572 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:11179973:G:A
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000011/3 (TOPMED)
                                        A=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1419971368 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          12:11180007 (GRCh38)
                                          12:11332605 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:11180006:C:T
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...