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Links from Nucleotide

Items: 1 to 20 of 442

1.

rs1489074198 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    18:12076600 (GRCh38)
    18:12076599 (GRCh37)
    Canonical SPDI:
    NC_000018.10:12076599:G:A
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    2.

    rs1486683650 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      18:12076868 (GRCh38)
      18:12076867 (GRCh37)
      Canonical SPDI:
      NC_000018.10:12076867:T:A
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000029/4 (GnomAD)
      A=0.000156/1 (1000Genomes)
      HGVS:
      3.

      rs1486355580 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        18:12076232 (GRCh38)
        18:12076231 (GRCh37)
        Canonical SPDI:
        NC_000018.10:12076231:A:G
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1484702830 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          18:12075993 (GRCh38)
          18:12075992 (GRCh37)
          Canonical SPDI:
          NC_000018.10:12075992:G:T
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1483064301 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            18:12076476 (GRCh38)
            18:12076475 (GRCh37)
            Canonical SPDI:
            NC_000018.10:12076475: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:
            6.

            rs1479993623 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              18:12076818 (GRCh38)
              18:12076817 (GRCh37)
              Canonical SPDI:
              NC_000018.10:12076817:C:A,NC_000018.10:12076817:C:T
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1477691450 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                18:12076544 (GRCh38)
                18:12076543 (GRCh37)
                Canonical SPDI:
                NC_000018.10:12076543:G:C
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000008/1 (GnomAD)
                C=0.000019/5 (TOPMED)
                HGVS:
                8.

                rs1476247618 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CCCGGAGCCTCATGGCG>- [Show Flanks]
                  Chromosome:
                  18:12076753 (GRCh38)
                  18:12076752 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:12076747:TGGCGCCCGGAGCCTCATGGCG:TGGCG
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TGGCG=0.000071/1 (ALFA)
                  -=0.000098/26 (TOPMED)
                  -=0.000116/16 (GnomAD)
                  -=0.000312/2 (1000Genomes)
                  HGVS:
                  9.

                  rs1476137203 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    18:12075591 (GRCh38)
                    18:12075590 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:12075590:C:T
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1474239733 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      18:12076692 (GRCh38)
                      18:12076691 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:12076691:C:G
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1474116588 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        18:12075605 (GRCh38)
                        18:12075604 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:12075604:G:A
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1473893902 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          18:12076635 (GRCh38)
                          18:12076634 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:12076634:C:A,NC_000018.10:12076634:C:T
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000015/4 (TOPMED)
                          HGVS:
                          13.

                          rs1472915000 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            18:12076528 (GRCh38)
                            18:12076527 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:12076527:C:A,NC_000018.10:12076527:C:T
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1472600122 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              18:12076940 (GRCh38)
                              18:12076939 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:12076939:A:T
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000021/3 (GnomAD)
                              T=0.000038/10 (TOPMED)
                              HGVS:
                              15.

                              rs1472263712 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                18:12076860 (GRCh38)
                                18:12076859 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:12076859:T:G
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000042/11 (TOPMED)
                                G=0.000065/9 (GnomAD)
                                HGVS:
                                16.

                                rs1471999199 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  18:12076773 (GRCh38)
                                  18:12076772 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:12076772:G:A,NC_000018.10:12076772:G:T
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000224/1 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  T=0.000035/1 (TOMMO)
                                  A=0.000223/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1470536087 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    18:12076634 (GRCh38)
                                    18:12076633 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:12076633:C:G,NC_000018.10:12076633:C:T
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000087/23 (TOPMED)
                                    T=0.000148/20 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1470368913 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      18:12075480 (GRCh38)
                                      18:12075479 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:12075479:G:T
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1469168339 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        18:12075399 (GRCh38)
                                        18:12075398 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:12075398:G:A
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1467756744 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->T [Show Flanks]
                                          Chromosome:
                                          18:12075648 (GRCh38)
                                          18:12075648 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:12075648:T:TT
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          TT=0./0 (ALFA)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:

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