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Items: 1 to 20 of 4475

1.

rs1491502577 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    1:84370197 (GRCh38)
    1:84835880 (GRCh37)
    Canonical SPDI:
    NC_000001.11:84370196:TA:
    Gene:
    UOX (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491234030 has merged into rs10591827 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CACACACACACACACACACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
      Chromosome:
      1:84370217 (GRCh38)
      1:84835900 (GRCh37)
      Canonical SPDI:
      NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
      Gene:
      UOX (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ACACACACACACACACACACACACA=0./0 (ALFA)
      ACACAC=0./0 (GENOME_DK)
      HGVS:
      NC_000001.11:g.84370199CA[9], NC_000001.11:g.84370199CA[11], NC_000001.11:g.84370199CA[12], NC_000001.11:g.84370199CA[13], NC_000001.11:g.84370199CA[14], NC_000001.11:g.84370199CA[15], NC_000001.11:g.84370199CA[16], NC_000001.11:g.84370199CA[17], NC_000001.11:g.84370199CA[18], NC_000001.11:g.84370199CA[19], NC_000001.11:g.84370199CA[20], NC_000001.11:g.84370199CA[21], NC_000001.11:g.84370199CA[22], NC_000001.11:g.84370199CA[23], NC_000001.11:g.84370199CA[24], NC_000001.11:g.84370199CA[26], NC_000001.11:g.84370199CA[27], NC_000001.11:g.84370199CA[28], NC_000001.11:g.84370199CA[29], NC_000001.11:g.84370199CA[30], NC_000001.11:g.84370199CA[31], NC_000001.10:g.84835882CA[9], NC_000001.10:g.84835882CA[11], NC_000001.10:g.84835882CA[12], NC_000001.10:g.84835882CA[13], NC_000001.10:g.84835882CA[14], NC_000001.10:g.84835882CA[15], NC_000001.10:g.84835882CA[16], NC_000001.10:g.84835882CA[17], NC_000001.10:g.84835882CA[18], NC_000001.10:g.84835882CA[19], NC_000001.10:g.84835882CA[20], NC_000001.10:g.84835882CA[21], NC_000001.10:g.84835882CA[22], NC_000001.10:g.84835882CA[23], NC_000001.10:g.84835882CA[24], NC_000001.10:g.84835882CA[26], NC_000001.10:g.84835882CA[27], NC_000001.10:g.84835882CA[28], NC_000001.10:g.84835882CA[29], NC_000001.10:g.84835882CA[30], NC_000001.10:g.84835882CA[31]
      3.

      rs1490859715 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:84373710 (GRCh38)
        1:84839393 (GRCh37)
        Canonical SPDI:
        NC_000001.11:84373709:T:C
        Gene:
        UOX (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000026/7 (TOPMED)
        C=0.0001/14 (GnomAD)
        HGVS:
        4.

        rs1490497220 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          1:84382122 (GRCh38)
          1:84847805 (GRCh37)
          Canonical SPDI:
          NC_000001.11:84382121:C:G
          Gene:
          UOX (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1490491668 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:84380878 (GRCh38)
            1:84846561 (GRCh37)
            Canonical SPDI:
            NC_000001.11:84380877:A:G
            Gene:
            UOX (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490441447 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:84382018 (GRCh38)
              1:84847701 (GRCh37)
              Canonical SPDI:
              NC_000001.11:84382017:C:T
              Gene:
              UOX (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490124613 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:84371994 (GRCh38)
                1:84837677 (GRCh37)
                Canonical SPDI:
                NC_000001.11:84371993:G:A
                Gene:
                UOX (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000015/4 (TOPMED)
                HGVS:
                8.

                rs1490094802 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G,T [Show Flanks]
                  Chromosome:
                  1:84377730 (GRCh38)
                  1:84843413 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:84377729:A:G,NC_000001.11:84377729:A:T
                  Gene:
                  UOX (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs1490038965 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:84374992 (GRCh38)
                    1:84840675 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:84374991:C:T
                    Gene:
                    UOX (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000021/3 (GnomAD)
                    T=0.000142/2 (TOMMO)
                    HGVS:
                    10.

                    rs1489790710 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:84381397 (GRCh38)
                      1:84847080 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:84381396:T:C
                      Gene:
                      UOX (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1489480085 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:84370237 (GRCh38)
                        1:84835920 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:84370236:C:T
                        Gene:
                        UOX (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000009/1 (GnomAD)
                        T=0.013023/38 (KOREAN)
                        C=0.5/1 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs1489474098 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          1:84374789 (GRCh38)
                          1:84840472 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:84374788:A:T
                          Gene:
                          UOX (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000011/3 (TOPMED)
                          T=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1489377469 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            1:84384557 (GRCh38)
                            1:84850240 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:84384556:T:A
                            Gene:
                            UOX (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489019023 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:84370496 (GRCh38)
                              1:84836179 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:84370495:G:A
                              Gene:
                              UOX (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1489000393 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:84370102 (GRCh38)
                                1:84835785 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:84370101:C:T
                                Gene:
                                UOX (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000023/6 (TOPMED)
                                T=0.000043/6 (GnomAD)
                                HGVS:
                                16.

                                rs1488875449 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:84379718 (GRCh38)
                                  1:84845401 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:84379717:A:G
                                  Gene:
                                  UOX (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488643301 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    1:84384095 (GRCh38)
                                    1:84849778 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:84384094:A:C
                                    Gene:
                                    UOX (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488629600 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      1:84375948 (GRCh38)
                                      1:84841631 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:84375947:G:C
                                      Gene:
                                      UOX (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488581192 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:84369030 (GRCh38)
                                        1:84834713 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:84369029:T:C
                                        Gene:
                                        UOX (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        C=0.000029/4 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1487961065 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:84366822 (GRCh38)
                                          1:84832505 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:84366821:T:C
                                          Gene:
                                          UOX (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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