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Links from Gene

Items: 1 to 20 of 1015

1.

rs1488214017 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    2:65897341 (GRCh38)
    2:66124475 (GRCh37)
    Canonical SPDI:
    NC_000002.12:65897340:C:T
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1487582814 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      2:65898916 (GRCh38)
      2:66126050 (GRCh37)
      Canonical SPDI:
      NC_000002.12:65898915:C:T
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      T=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1486118217 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        2:65895740 (GRCh38)
        2:66122874 (GRCh37)
        Canonical SPDI:
        NC_000002.12:65895739:C:A
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.001092/2 (Korea1K)
        HGVS:
        4.

        rs1485096193 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,T [Show Flanks]
          Chromosome:
          2:65896460 (GRCh38)
          2:66123594 (GRCh37)
          Canonical SPDI:
          NC_000002.12:65896459:A:C,NC_000002.12:65896459:A:T
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1485044772 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            2:65896358 (GRCh38)
            2:66123492 (GRCh37)
            Canonical SPDI:
            NC_000002.12:65896357:C:G
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000224/1 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000223/1 (Estonian)
            HGVS:
            6.

            rs1484794892 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              2:65897201 (GRCh38)
              2:66124335 (GRCh37)
              Canonical SPDI:
              NC_000002.12:65897200:A:C,NC_000002.12:65897200:A:G
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1484745118 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                A>- [Show Flanks]
                Chromosome:
                2:65896326 (GRCh38)
                2:66123460 (GRCh37)
                Canonical SPDI:
                NC_000002.12:65896325:A:
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                -=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1483412977 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  2:65896678 (GRCh38)
                  2:66123812 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:65896677:T:A
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (TOPMED)
                  A=0.021667/13 (NorthernSweden)
                  HGVS:
                  9.

                  rs1483193224 has merged into rs973021760 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    T>-,TT [Show Flanks]
                    Chromosome:
                    2:65898506 (GRCh38)
                    2:66125640 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:65898505:TTTTTTTT:TTTTTTT,NC_000002.12:65898505:TTTTTTTT:TTTTTTTTT
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTT=0./0 (ALFA)
                    -=0.000014/2 (GnomAD)
                    -=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1482772120 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:65897073 (GRCh38)
                      2:66124207 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:65897072:C:T
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1482737138 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->TCTGT [Show Flanks]
                        Chromosome:
                        2:65899169 (GRCh38)
                        2:66126304 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:65899169::TCTGT
                        Validated:
                        by frequency,by cluster
                        MAF:
                        TCTGT=0.00015/21 (GnomAD)
                        TCTGT=0.000156/1 (1000Genomes)
                        HGVS:
                        12.

                        rs1482244981 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          2:65898505 (GRCh38)
                          2:66125639 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:65898504:G:T
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1481722554 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            2:65899905 (GRCh38)
                            2:66127039 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:65899904:A:T
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.00007/1 (ALFA)
                            HGVS:
                            14.

                            rs1481209242 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              2:65899062 (GRCh38)
                              2:66126196 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:65899061:T:C,NC_000002.12:65899061:T:G
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              C=0.000546/1 (Korea1K)
                              HGVS:
                              15.

                              rs1480214954 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                2:65899515 (GRCh38)
                                2:66126649 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:65899514:A:G
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000029/4 (GnomAD)
                                HGVS:
                                16.

                                rs1479423702 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  2:65896247 (GRCh38)
                                  2:66123381 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:65896246:G:C
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.00003/8 (TOPMED)
                                  C=0.00005/7 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1478698861 has merged into rs3058945 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
                                    Chromosome:
                                    2:65897022 (GRCh38)
                                    2:66124156 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:65897010:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:65897010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:65897010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:65897010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:65897010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:65897010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:65897010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:65897010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
                                    -=0.328671/86996 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1475604826 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:65895840 (GRCh38)
                                      2:66122974 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:65895839: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.

                                      rs1475420532 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:65899723 (GRCh38)
                                        2:66126857 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:65899722:T:C
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000015/4 (TOPMED)
                                        C=0.000036/5 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1474929127 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          2:65897572 (GRCh38)
                                          2:66124706 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:65897571:T:G
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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