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Links from Nucleotide

Items: 1 to 20 of 411

1.

rs1490296880 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    7:64863927 (GRCh38)
    7:64324305 (GRCh37)
    Canonical SPDI:
    NC_000007.14:64863926:G:A
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.00003/8 (TOPMED)
    A=0.000036/5 (GnomAD)
    HGVS:
    2.

    rs1489032634 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      7:64862944 (GRCh38)
      7:64323322 (GRCh37)
      Canonical SPDI:
      NC_000007.14:64862943:C:A
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1488373584 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AG>-,AGAG [Show Flanks]
        Chromosome:
        7:64864383 (GRCh38)
        7:64324761 (GRCh37)
        Canonical SPDI:
        NC_000007.14:64864381:GAG:G,NC_000007.14:64864381:GAG:GAGAG
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.00042/5 (ALFA)
        -=0.00654/92 (GnomAD)
        -=0.00656/42 (1000Genomes)
        -=0.00879/16 (Korea1K)
        -=0.01055/146 (TOMMO)
        HGVS:
        4.

        rs1487798802 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          7:64862963 (GRCh38)
          7:64323341 (GRCh37)
          Canonical SPDI:
          NC_000007.14:64862962:C:A,NC_000007.14:64862962:C:T
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000019/5 (TOPMED)
          HGVS:
          5.

          rs1487556261 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            7:64863814 (GRCh38)
            7:64324192 (GRCh37)
            Canonical SPDI:
            NC_000007.14:64863813:C:T
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1487524604 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GAA>- [Show Flanks]
              Chromosome:
              7:64864468 (GRCh38)
              7:64324846 (GRCh37)
              Canonical SPDI:
              NC_000007.14:64864465:AAGAA:AA
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AA=0./0 (ALFA)
              -=0.00026/4 (TOMMO)
              HGVS:
              7.

              rs1483961014 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                7:64864520 (GRCh38)
                7:64324898 (GRCh37)
                Canonical SPDI:
                NC_000007.14:64864519:CA:
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.000022/3 (GnomAD)
                -=0.000026/7 (TOPMED)
                HGVS:
                8.

                rs1480401503 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  7:64862903 (GRCh38)
                  7:64323281 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:64862902:G:C
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1480360676 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    7:64864029 (GRCh38)
                    7:64324407 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:64864028:A:G
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1478935376 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      A>- [Show Flanks]
                      Chromosome:
                      7:64863523 (GRCh38)
                      7:64323901 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:64863522:AAA:AA
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AA=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1478069412 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        7:64864379 (GRCh38)
                        7:64324757 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:64864378:T:A
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.01472/43 (KOREAN)
                        HGVS:
                        12.

                        rs1477485112 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          7:64864300 (GRCh38)
                          7:64324678 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:64864299: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.

                          rs1477089191 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            7:64864532 (GRCh38)
                            7:64324910 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:64864531:T:C
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000014/2 (GnomAD)
                            C=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs1474087918 has merged into rs59110165 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GAAAA>-,GAAAAGAAAA,GAAAAGAAAAGAAAA [Show Flanks]
                              Chromosome:
                              7:64864478 (GRCh38)
                              7:64324856 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:64864463:AAAAGAAAAGAAAAGAAAA:AAAAGAAAAGAAAA,NC_000007.14:64864463:AAAAGAAAAGAAAAGAAAA:AAAAGAAAAGAAAAGAAAAGAAAA,NC_000007.14:64864463:AAAAGAAAAGAAAAGAAAA:AAAAGAAAAGAAAAGAAAAGAAAAGAAAA
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAGAAAAGAAAAGAAAAGAAAAGAAAA=0./0 (ALFA)
                              AAAAG=0.09167/55 (NorthernSweden)
                              AAAAG=0.1/4 (GENOME_DK)
                              AAAAG=0.22162/406 (Korea1K)
                              HGVS:
                              15.

                              rs1471897017 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                7:64863477 (GRCh38)
                                7:64323855 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:64863476:G:T
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1471081919 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  7:64863160 (GRCh38)
                                  7:64323538 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:64863159:C:T
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000066/1 (ALFA)
                                  T=0.000021/3 (GnomAD)
                                  T=0.000223/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1470555550 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    TA>- [Show Flanks]
                                    Chromosome:
                                    7:64863790 (GRCh38)
                                    7:64324168 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:64863789:TA:
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000008/2 (TOPMED)
                                    -=0.000035/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1467735016 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      C>- [Show Flanks]
                                      Chromosome:
                                      7:64863009 (GRCh38)
                                      7:64323387 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:64863008:C:
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000029/4 (GnomAD)
                                      -=0.000068/18 (TOPMED)
                                      -=0.000468/3 (1000Genomes)
                                      -=0.000546/1 (Korea1K)
                                      -=0.000885/15 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1466952958 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        7:64864179 (GRCh38)
                                        7:64324557 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:64864178:G:A
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1466180158 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TTGGCCCCAAAACTGGCCATAAA>- [Show Flanks]
                                          Chromosome:
                                          7:64863526 (GRCh38)
                                          7:64323904 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:64863514:CTGGCCATAAATTGGCCCCAAAACTGGCCATAAA:CTGGCCATAAA
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CTGGCCATAAA=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:

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