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Links from Nucleotide

Items: 1 to 20 of 2180

1.

rs1490997332 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    7:73431699 (GRCh38)
    7:72846029 (GRCh37)
    Canonical SPDI:
    NC_000007.14:73431698:G:A
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000422/5 (ALFA)
    A=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490869841 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      7:73431644 (GRCh38)
      7:72845974 (GRCh37)
      Canonical SPDI:
      NC_000007.14:73431643:A:T
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490430642 has merged into rs868915319 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        7:73433703 (GRCh38)
        7:72848033 (GRCh37)
        Canonical SPDI:
        NC_000007.14:73433702:G:A,NC_000007.14:73433702:G:C
        Gene:
        FZD9 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        A=0.000243/34 (GnomAD)
        A=0.000283/75 (TOPMED)
        C=0.00463/1 (Qatari)
        HGVS:
        4.

        rs1490394335 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          7:73432767 (GRCh38)
          7:72847097 (GRCh37)
          Canonical SPDI:
          NC_000007.14:73432766:A:T
          Gene:
          FZD9 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000057/15 (TOPMED)
          T=0.000071/10 (GnomAD)
          HGVS:
          5.

          rs1489940988 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            7:73433938 (GRCh38)
            7:72848268 (GRCh37)
            Canonical SPDI:
            NC_000007.14:73433937:C:G,NC_000007.14:73433937:C:T
            Gene:
            FZD9 (Varview)
            Functional Consequence:
            5_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            T=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1489905367 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              7:73433256 (GRCh38)
              7:72847586 (GRCh37)
              Canonical SPDI:
              NC_000007.14:73433255:G:A,NC_000007.14:73433255:G:T
              Gene:
              FZD9 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              A=0.000035/1 (TOMMO)
              HGVS:
              7.

              rs1489265575 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                7:73436904 (GRCh38)
                7:72851234 (GRCh37)
                Canonical SPDI:
                NC_000007.14:73436903:C:A,NC_000007.14:73436903:C:T
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1489107305 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  7:73434410 (GRCh38)
                  7:72848740 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:73434409:G:T
                  Gene:
                  FZD9 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000006/1 (GnomAD_exomes)
                  T=0.000007/1 (GnomAD)
                  T=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1489027231 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    7:73433640 (GRCh38)
                    7:72847970 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:73433639:C:G
                    Gene:
                    FZD9 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1489008122 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      G>-,GG [Show Flanks]
                      Chromosome:
                      7:73437794 (GRCh38)
                      7:72852124 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:73437793:GGG:GG,NC_000007.14:73437793:GGG:GGGG
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GGGG=0./0 (ALFA)
                      -=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1488766569 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        7:73431105 (GRCh38)
                        7:72845435 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:73431104:T:A
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1487899434 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          7:73435916 (GRCh38)
                          7:72850246 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:73435915:G:C,NC_000007.14:73435915:G:T
                          Gene:
                          FZD9 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          C=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1487564841 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            7:73432318 (GRCh38)
                            7:72846648 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:73432317:T:C
                            Gene:
                            FZD9 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.00103/17 (TOMMO)
                            C=0.00164/3 (Korea1K)
                            C=0.0024/7 (KOREAN)
                            HGVS:
                            14.

                            rs1487466781 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              7:73435976 (GRCh38)
                              7:72850306 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:73435975:G:A
                              Gene:
                              FZD9 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1487435648 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                C>- [Show Flanks]
                                Chromosome:
                                7:73434856 (GRCh38)
                                7:72849186 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:73434855:CC:C
                                Gene:
                                FZD9 (Varview)
                                Functional Consequence:
                                frameshift_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CC=0./0 (ALFA)
                                -=0.000034/9 (TOPMED)
                                -=0.000036/5 (GnomAD)
                                HGVS:
                                16.

                                rs1487327336 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  7:73429248 (GRCh38)
                                  7:72843578 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:73429247:C:T
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1487140215 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    7:73435367 (GRCh38)
                                    7:72849697 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:73435366:C:G,NC_000007.14:73435366:C:T
                                    Gene:
                                    FZD9 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1486925318 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      7:73429290 (GRCh38)
                                      7:72843620 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:73429289:C:T
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486917427 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        7:73436295 (GRCh38)
                                        7:72850625 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:73436294:C:G
                                        Gene:
                                        FZD9 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486797105 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          7:73431993 (GRCh38)
                                          7:72846323 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:73431992:C:A
                                          Gene:
                                          FZD9 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          A=0.000019/5 (TOPMED)
                                          HGVS:

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