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Links from Gene

Items: 1 to 20 of 919

1.

rs1490888427 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,T [Show Flanks]
    Chromosome:
    8:85663667 (GRCh38)
    8:86575896 (GRCh37)
    Canonical SPDI:
    NC_000008.11:85663666:A:C,NC_000008.11:85663666:A:T
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.00087/14 (ALFA)
    T=0.00333/55 (TOMMO)
    T=0.0068/12 (Korea1K)
    T=0.00854/24 (KOREAN)
    HGVS:
    2.

    rs1490805255 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      8:85661623 (GRCh38)
      8:86573852 (GRCh37)
      Canonical SPDI:
      NC_000008.11:85661622:G:A,NC_000008.11:85661622:G:C
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000017/2 (GnomAD_exomes)
      A=0.001028/3 (KOREAN)
      HGVS:
      3.

      rs1490696941 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        8:85662286 (GRCh38)
        8:86574515 (GRCh37)
        Canonical SPDI:
        NC_000008.11:85662285:C:A,NC_000008.11:85662285:C:T
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        A=0.000009/1 (GnomAD_exomes)
        T=0.000025/3 (GnomAD)
        HGVS:
        4.

        rs1490641967 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G [Show Flanks]
          Chromosome:
          8:85661962 (GRCh38)
          8:86574191 (GRCh37)
          Canonical SPDI:
          NC_000008.11:85661961:C:A,NC_000008.11:85661961:C:G
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          HGVS:
          5.

          rs1490529995 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            8:85662957 (GRCh38)
            8:86575186 (GRCh37)
            Canonical SPDI:
            NC_000008.11:85662956:C:T
            Validated:
            by frequency
            MAF:
            T=0.00003/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1490335532 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              8:85663052 (GRCh38)
              8:86575281 (GRCh37)
              Canonical SPDI:
              NC_000008.11:85663051:A:G
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              HGVS:
              7.

              rs1489826276 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G,T [Show Flanks]
                Chromosome:
                8:85662283 (GRCh38)
                8:86574512 (GRCh37)
                Canonical SPDI:
                NC_000008.11:85662282:C:A,NC_000008.11:85662282:C:G,NC_000008.11:85662282:C:T
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                A=0.000008/1 (GnomAD)
                G=0.00221/4 (Korea1K)
                HGVS:
                8.

                rs1489631770 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  8:85663397 (GRCh38)
                  8:86575626 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:85663396:C:G,NC_000008.11:85663396:C:T
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  C=0./0 (SGDP_PRJ)
                  T=0.00008/1 (TOMMO)
                  G=0.00746/78 (GnomAD_exomes)
                  G=0.01597/39 (KOREAN)
                  HGVS:
                  9.

                  rs1488992293 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C,G [Show Flanks]
                    Chromosome:
                    8:85661451 (GRCh38)
                    8:86573680 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:85661450:T:C,NC_000008.11:85661450:T:G
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000668/9 (ALFA)
                    C=0.000035/1 (TOMMO)
                    G=0.000568/77 (GnomAD)
                    G=0.001093/7 (1000Genomes)
                    HGVS:
                    10.

                    rs1488788110 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      T>- [Show Flanks]
                      Chromosome:
                      8:85660984 (GRCh38)
                      8:86573213 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:85660983:TTT:TT
                      HGVS:
                      11.

                      rs1488629247 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C,T [Show Flanks]
                        Chromosome:
                        8:85664053 (GRCh38)
                        8:86576282 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:85664052:G:A,NC_000008.11:85664052:G:C,NC_000008.11:85664052:G:T
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        G=0./0 (SGDP_PRJ)
                        A=0.000008/1 (GnomAD)
                        HGVS:
                        12.

                        rs1487081425 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          8:85662953 (GRCh38)
                          8:86575182 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:85662952:G:A,NC_000008.11:85662952:G:T
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.00003/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1487049549 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            8:85661861 (GRCh38)
                            8:86574090 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:85661860:G:A,NC_000008.11:85661860:G:C
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1486560847 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              8:85663987 (GRCh38)
                              8:86576216 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:85663986:G:A,NC_000008.11:85663986:G:C
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              G=0./0 (SGDP_PRJ)
                              C=0.000032/4 (GnomAD)
                              HGVS:
                              15.

                              rs1486525628 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                8:85663193 (GRCh38)
                                8:86575422 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:85663192:A:G
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.00005/3 (GnomAD)
                                HGVS:
                                16.

                                rs1485520645 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  8:85663095 (GRCh38)
                                  8:86575324 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:85663094:C:T
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  C=0./0 (SGDP_PRJ)
                                  T=0.00002/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1485096599 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    8:85662751 (GRCh38)
                                    8:86574980 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:85662750:C:A,NC_000008.11:85662750:C:T
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.01842/291 (TOMMO)
                                    A=0.0241/64 (KOREAN)
                                    A=0.05263/2 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1484805475 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      8:85661217 (GRCh38)
                                      8:86573446 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:85661216:G:A,NC_000008.11:85661216:G:T
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1484480016 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G [Show Flanks]
                                        Chromosome:
                                        8:85661357 (GRCh38)
                                        8:86573586 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:85661356:C:A,NC_000008.11:85661356:C:G
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1484331230 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C,G [Show Flanks]
                                          Chromosome:
                                          8:85661531 (GRCh38)
                                          8:86573760 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:85661530:T:C,NC_000008.11:85661530:T:G
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000048/1 (ALFA)
                                          C=0.000022/3 (GnomAD)
                                          HGVS:

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