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Links from Nucleotide

Items: 1 to 20 of 83

1.

rs1473721891 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    8:20229881 (GRCh38)
    8:20087392 (GRCh37)
    Canonical SPDI:
    NC_000008.11:20229880:G:A
    Validated:
    by frequency,by alfa
    MAF:
    A=0.00033/5 (ALFA)
    A=0.00112/5 (Estonian)
    HGVS:
    2.

    rs1468796868 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      T>G
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1466991872 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GA>- [Show Flanks]
        Chromosome:
        8:20229888 (GRCh38)
        8:20087399 (GRCh37)
        Canonical SPDI:
        NC_000008.11:20229886:AGA:A
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        -=0.000021/3 (GnomAD)
        -=0.000034/9 (TOPMED)
        -=0.000035/1 (TOMMO)
        -=0.000312/2 (1000Genomes)
        HGVS:
        4.

        rs1463645156 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          8:20229833 (GRCh38)
          8:20087344 (GRCh37)
          Canonical SPDI:
          NC_000008.11:20229832:C:T
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1463595742 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            8:20229753 (GRCh38)
            8:20087265 (GRCh37)
            Canonical SPDI:
            NC_000008.11:20229753:GGG:GGGG
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GGGG=0./0 (ALFA)
            G=0.000045/12 (TOPMED)
            G=0.00005/7 (GnomAD)
            HGVS:
            6.

            rs1448331171 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              8:20229907 (GRCh38)
              8:20087418 (GRCh37)
              Canonical SPDI:
              NC_000008.11:20229906: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:
              7.

              rs1447759108 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                8:20229820 (GRCh38)
                8:20087331 (GRCh37)
                Canonical SPDI:
                NC_000008.11:20229819:C:G
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1445153148 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  8:20229894 (GRCh38)
                  8:20087405 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:20229893:A:G
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1441950347 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTCAGCAGCACATAC>- [Show Flanks]
                    Chromosome:
                    8:20229787 (GRCh38)
                    8:20087298 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:20229784:ACTTCAGCAGCACATAC:AC
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AC=0./0 (ALFA)
                    -=0.000011/3 (TOPMED)
                    -=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1428760764 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      8:20229884 (GRCh38)
                      8:20087395 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:20229883:G:A,NC_000008.11:20229883:G:T
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0.00033/5 (ALFA)
                      A=0.00112/5 (Estonian)
                      HGVS:
                      11.

                      rs1414343837 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        8:20229745 (GRCh38)
                        8:20087256 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:20229744: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:
                        12.

                        rs1412994203 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          8:20229729 (GRCh38)
                          8:20087240 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:20229728: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:
                          13.

                          rs1409707956 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            8:20229906 (GRCh38)
                            8:20087417 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:20229905:G:A,NC_000008.11:20229905:G:T
                            HGVS:
                            14.

                            rs1405963033 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              8:20229756 (GRCh38)
                              8:20087267 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:20229755:G:A
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1405770317 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                8:20229950 (GRCh38)
                                8:20087461 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:20229949:A:G
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1401032433 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  8:20229725 (GRCh38)
                                  8:20087236 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:20229724:A:G
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1394972298 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    AAAT>- [Show Flanks]
                                    Chromosome:
                                    8:20229894 (GRCh38)
                                    8:20087405 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:20229893:AAAT:
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0.000447/2 (ALFA)
                                    -=0.000007/1 (GnomAD)
                                    -=0.000446/2 (Estonian)
                                    HGVS:
                                    18.

                                    rs1375542345 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      8:20229896 (GRCh38)
                                      8:20087407 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:20229895: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:
                                      19.

                                      rs1351927388 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AA>- [Show Flanks]
                                        Chromosome:
                                        8:20229943 (GRCh38)
                                        8:20087454 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:20229941:AAA:A
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1345592708 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          8:20229862 (GRCh38)
                                          8:20087373 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:20229861:A:T
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000021/3 (GnomAD)
                                          T=0.00003/8 (TOPMED)
                                          T=0.000156/1 (1000Genomes)
                                          HGVS:

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