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Links from Nucleotide

Items: 1 to 20 of 152

1.

rs1490891570 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    2:179400378 (GRCh38)
    2:180265106 (GRCh37)
    Canonical SPDI:
    NC_000002.12:179400378:T:TT
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TT=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490415879 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      2:179400928 (GRCh38)
      2:180265655 (GRCh37)
      Canonical SPDI:
      NC_000002.12:179400927:T:C
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490196886 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        2:179400549 (GRCh38)
        2:180265276 (GRCh37)
        Canonical SPDI:
        NC_000002.12:179400548:C:T
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000019/5 (TOPMED)
        T=0.000029/4 (GnomAD)
        HGVS:
        4.

        rs1489924662 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          2:179400471 (GRCh38)
          2:180265198 (GRCh37)
          Canonical SPDI:
          NC_000002.12:179400470:G:C
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1485799004 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            C>- [Show Flanks]
            Chromosome:
            2:179400478 (GRCh38)
            2:180265205 (GRCh37)
            Canonical SPDI:
            NC_000002.12:179400477:CC:C
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CC=0./0 (ALFA)
            -=0.000008/2 (TOPMED)
            -=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1477140215 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:179400555 (GRCh38)
              2:180265282 (GRCh37)
              Canonical SPDI:
              NC_000002.12:179400554: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:
              7.

              rs1454192953 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                2:179400445 (GRCh38)
                2:180265172 (GRCh37)
                Canonical SPDI:
                NC_000002.12:179400444:C:A
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1446950746 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  2:179400603 (GRCh38)
                  2:180265330 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:179400602:C:A
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1445728225 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:179400649 (GRCh38)
                    2:180265376 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:179400648:G:A
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1440261381 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:179400673 (GRCh38)
                      2:180265400 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:179400672:A:G
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1436345189 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        2:179400569 (GRCh38)
                        2:180265296 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:179400568:T:C
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1428335285 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          2:179400576 (GRCh38)
                          2:180265303 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:179400575:T:C
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1425747249 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:179400754 (GRCh38)
                            2:180265481 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:179400753: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:
                            14.

                            rs1409381073 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              2:179400913 (GRCh38)
                              2:180265640 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:179400912:A:C
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000019/5 (TOPMED)
                              C=0.000036/5 (GnomAD)
                              HGVS:
                              15.

                              rs1407856868 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                2:179400936 (GRCh38)
                                2:180265663 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:179400935:A:G,NC_000002.12:179400935:A:T
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1405914712 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  2:179400868 (GRCh38)
                                  2:180265595 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:179400867:C:G
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1398870762 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C,T [Show Flanks]
                                    Chromosome:
                                    2:179400626 (GRCh38)
                                    2:180265353 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:179400625:G:C,NC_000002.12:179400625:G:T
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    C=0.002183/4 (Korea1K)
                                    HGVS:
                                    18.

                                    rs1390502988 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:179400653 (GRCh38)
                                      2:180265380 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:179400652:T:C
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000162/3 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      C=0.00067/3 (Estonian)
                                      HGVS:
                                      19.

                                      rs1386286270 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        2:179400601 (GRCh38)
                                        2:180265328 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:179400600: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:
                                        20.

                                        rs1385149552 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          2:179400759 (GRCh38)
                                          2:180265486 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:179400758:C:A
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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