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Links from Nucleotide

Items: 1 to 20 of 1028

1.

rs1488232864 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    12:102843743 (GRCh38)
    12:103237521 (GRCh37)
    Canonical SPDI:
    NC_000012.12:102843742:C:G,NC_000012.12:102843742:C:T
    Gene:
    PAH (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
    Clinical significance:
    likely-pathogenic
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    G=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1487195946 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      12:102917365 (GRCh38)
      12:103311143 (GRCh37)
      Canonical SPDI:
      NC_000012.12:102917364:C:G,NC_000012.12:102917364:C:T
      Gene:
      PAH (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      HGVS:
      3.

      rs1486763160 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        12:102851731 (GRCh38)
        12:103245509 (GRCh37)
        Canonical SPDI:
        NC_000012.12:102851730:G:A
        Gene:
        PAH (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
        Clinical significance:
        likely-pathogenic
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000111/1 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1484963134 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          12:102917572 (GRCh38)
          12:103311350 (GRCh37)
          Canonical SPDI:
          NC_000012.12:102917571:T:C
          Gene:
          PAH (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1484771784 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            12:102838393 (GRCh38)
            12:103232171 (GRCh37)
            Canonical SPDI:
            NC_000012.12:102838392:A:C
            Gene:
            PAH (Varview)
            Functional Consequence:
            3_prime_UTR_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000011/3 (TOPMED)
            C=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs1484405622 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              12:102917472 (GRCh38)
              12:103311250 (GRCh37)
              Canonical SPDI:
              NC_000012.12:102917471:G:A
              Gene:
              PAH (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1483331805 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                12:102917252 (GRCh38)
                12:103311030 (GRCh37)
                Canonical SPDI:
                NC_000012.12:102917251:G:C
                Gene:
                PAH (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                C=0.000156/1 (1000Genomes)
                HGVS:
                8.

                rs1482820632 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  12:102840470 (GRCh38)
                  12:103234248 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:102840469:G:A
                  Gene:
                  PAH (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1477724850 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    12:102838945 (GRCh38)
                    12:103232723 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:102838944:A:G
                    Gene:
                    PAH (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000014/2 (GnomAD)
                    G=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1473385547 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      12:102838942 (GRCh38)
                      12:103232720 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:102838941:A:T
                      Gene:
                      PAH (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1472597961 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        12:102917241 (GRCh38)
                        12:103311019 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:102917240:G:A
                        Gene:
                        PAH (Varview)
                        Functional Consequence:
                        intron_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1472277313 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          12:102917413 (GRCh38)
                          12:103311191 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:102917412:T:A
                          Gene:
                          PAH (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000029/4 (GnomAD)
                          HGVS:
                          13.

                          rs1469945290 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAT>- [Show Flanks]
                            Chromosome:
                            12:102838335 (GRCh38)
                            12:103232113 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:102838333:TAAT:T
                            Gene:
                            PAH (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            -=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1467344056 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              12:102917418 (GRCh38)
                              12:103311196 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:102917417:T:C,NC_000012.12:102917417:T:G
                              Gene:
                              PAH (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              C=0.000142/2 (TOMMO)
                              HGVS:
                              16.

                              rs1464791963 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                12:102838839 (GRCh38)
                                12:103232617 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:102838838:T:G
                                Gene:
                                PAH (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000023/6 (TOPMED)
                                G=0.000029/4 (GnomAD)
                                HGVS:
                                17.

                                rs1464146211 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  12:102917453 (GRCh38)
                                  12:103311231 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:102917452:G:A
                                  Gene:
                                  PAH (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000177/3 (TOMMO)
                                  HGVS:
                                  18.
                                  19.

                                  rs1459776552 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    12:102855197 (GRCh38)
                                    12:103248975 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:102855196:C:T
                                    Gene:
                                    PAH (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    20.

                                    rs1458127240 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      12:102838329 (GRCh38)
                                      12:103232107 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:102838328:A:G
                                      Gene:
                                      PAH (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:

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