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Links from Nucleotide

Items: 1 to 20 of 444

1.

rs1491528925 has merged into rs60004852 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC [Show Flanks]
    Chromosome:
    3:114232900 (GRCh38)
    3:113951747 (GRCh37)
    Canonical SPDI:
    NC_000003.12:114232891:CCCCCCCCCC:CCCCCCCC,NC_000003.12:114232891:CCCCCCCCCC:CCCCCCCCC,NC_000003.12:114232891:CCCCCCCCCC:CCCCCCCCCCC,NC_000003.12:114232891:CCCCCCCCCC:CCCCCCCCCCCC,NC_000003.12:114232891:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000003.12:114232891:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000003.12:114232891:CCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000003.12:114232891:CCCCCCCCCC:CCCCCCCCCCCCCCCC
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CCCCCCCCCCCCCC=0./0 (ALFA)
    C=0.4906/2457 (1000Genomes)
    HGVS:
    2.

    rs1491486944 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GC,TC [Show Flanks]
      Chromosome:
      3:114232900 (GRCh38)
      3:113951748 (GRCh37)
      Canonical SPDI:
      NC_000003.12:114232900:C:CGC,NC_000003.12:114232900:C:CTC
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CTC=0./0 (ALFA)
      CG=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490831200 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:114232458 (GRCh38)
        3:113951305 (GRCh37)
        Canonical SPDI:
        NC_000003.12:114232457:T:C
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1489904357 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          3:114232498 (GRCh38)
          3:113951345 (GRCh37)
          Canonical SPDI:
          NC_000003.12:114232497:A:T
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489001422 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            3:114231932 (GRCh38)
            3:113950779 (GRCh37)
            Canonical SPDI:
            NC_000003.12:114231931:C:G,NC_000003.12:114231931:C:T
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1488189258 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              3:114232749 (GRCh38)
              3:113951596 (GRCh37)
              Canonical SPDI:
              NC_000003.12:114232748:C:T
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000011/3 (TOPMED)
              T=0.000342/1 (KOREAN)
              HGVS:
              7.

              rs1487534222 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                3:114232902 (GRCh38)
                3:113951749 (GRCh37)
                Canonical SPDI:
                NC_000003.12:114232901:A:C,NC_000003.12:114232901:A:G
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.00044/7 (ALFA)
                G=0.00001/1 (GnomAD)
                C=0.00492/78 (TOMMO)
                C=0.04825/141 (KOREAN)
                A=0.5/2 (SGDP_PRJ)
                HGVS:
                8.

                rs1487209434 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  3:114231644 (GRCh38)
                  3:113950491 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:114231643:G:A,NC_000003.12:114231643:G:C
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000015/4 (TOPMED)
                  A=0.000029/4 (GnomAD)
                  C=0.000106/2 (TOMMO)
                  HGVS:
                  9.

                  rs1486443855 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    3:114232774 (GRCh38)
                    3:113951621 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:114232773:C:T
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    T=0.000036/5 (GnomAD)
                    HGVS:
                    10.

                    rs1485924275 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      3:114232565 (GRCh38)
                      3:113951412 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:114232564:T:A
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1482056361 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        3:114233101 (GRCh38)
                        3:113951948 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:114233100: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:
                        12.

                        rs1481652649 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CCTT>- [Show Flanks]
                          Chromosome:
                          3:114232242 (GRCh38)
                          3:113951089 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:114232238:CTTCCTT:CTT
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          CTT=0./0 (ALFA)
                          -=0.000007/1 (GnomAD)
                          -=0.000156/1 (1000Genomes)
                          HGVS:
                          13.

                          rs1481287024 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            3:114232553 (GRCh38)
                            3:113951400 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:114232552:G:C
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000036/5 (GnomAD)
                            C=0.000072/19 (TOPMED)
                            HGVS:
                            14.

                            rs1480961853 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->AC,GC [Show Flanks]
                              Chromosome:
                              3:114232897 (GRCh38)
                              3:113951745 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:114232897:C:CAC,NC_000003.12:114232897:C:CGC
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CGC=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1478021054 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,G [Show Flanks]
                                Chromosome:
                                3:114231675 (GRCh38)
                                3:113950522 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:114231674:C:A,NC_000003.12:114231674:C:G
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1477741658 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  3:114232317 (GRCh38)
                                  3:113951164 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:114232316:G:A,NC_000003.12:114232316:G:T
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1477690875 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    3:114232539 (GRCh38)
                                    3:113951386 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:114232538:T:C
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1476725348 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      3:114231387 (GRCh38)
                                      3:113950234 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:114231386:A:G
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1474034142 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        3:114231346 (GRCh38)
                                        3:113950193 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:114231345: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:
                                        20.

                                        rs1472491615 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          3:114231450 (GRCh38)
                                          3:113950297 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:114231449:A:G
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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