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Items: 1 to 20 of 21020

1.

rs1491544325 has merged into rs35546438 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GGGG>-,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
    Chromosome:
    21:42075248 (GRCh38)
    21:43495357 (GRCh37)
    Canonical SPDI:
    NC_000021.9:42075241:GGGGGGGGGG:GGGGGG,NC_000021.9:42075241:GGGGGGGGGG:GGGGGGGG,NC_000021.9:42075241:GGGGGGGGGG:GGGGGGGGG,NC_000021.9:42075241:GGGGGGGGGG:GGGGGGGGGGG,NC_000021.9:42075241:GGGGGGGGGG:GGGGGGGGGGGG,NC_000021.9:42075241:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000021.9:42075241:GGGGGGGGGG:GGGGGGGGGGGGGG
    Gene:
    UMODL1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GGGGGGGG=0./0 (ALFA)
    G=0.07548/378 (1000Genomes)
    HGVS:
    2.

    rs1491508964 has merged into rs72241179 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TGTGTG>-,TG,TGTG,TGTGTGTG [Show Flanks]
      Chromosome:
      21:42073017 (GRCh38)
      21:43493126 (GRCh37)
      Canonical SPDI:
      NC_000021.9:42073007:GTGTGTGTGTGTGTG:GTGTGTGTG,NC_000021.9:42073007:GTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000021.9:42073007:GTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000021.9:42073007:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG
      Gene:
      UMODL1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GTGTGTGTGTGTGTGTG=0./0 (ALFA)
      -=0.178256/687 (ALSPAC)
      GT=0.296126/1483 (1000Genomes)
      GT=0.332812/88092 (TOPMED)
      -=0.453603/831 (Korea1K)
      ...more
      HGVS:
      3.

      rs1491235329 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->CA [Show Flanks]
        Chromosome:
        21:42073032 (GRCh38)
        21:43493142 (GRCh37)
        Canonical SPDI:
        NC_000021.9:42073032::CA
        Gene:
        UMODL1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency
        MAF:
        CA=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1491166611 has merged into rs11322789 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TT>-,T,TTT,TTTT,TTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          21:42092866 (GRCh38)
          21:43512976 (GRCh37)
          Canonical SPDI:
          NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTT,NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTTT,NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
          Gene:
          UMODL1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTT=0.1425/914 (ALFA)
          T=0.4633/1715 (1000Genomes)
          HGVS:
          5.

          rs1491026109 has merged into rs1555933416 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CG>-,CGCG,CGCGCG,CGCGCGCG [Show Flanks]
            Chromosome:
            21:42130247 (GRCh38)
            21:43550357 (GRCh37)
            Canonical SPDI:
            NC_000021.9:42130245:GCG:G,NC_000021.9:42130245:GCG:GCGCG,NC_000021.9:42130245:GCG:GCGCGCG,NC_000021.9:42130245:GCG:GCGCGCGCG
            Gene:
            UMODL1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GCGCG=0./0 (ALFA)
            -=0.000026/7 (TOPMED)
            HGVS:
            6.

            rs1491021918 has merged into rs11322789 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TT>-,T,TTT,TTTT,TTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              21:42092866 (GRCh38)
              21:43512976 (GRCh37)
              Canonical SPDI:
              NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTT,NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTTT,NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
              Gene:
              UMODL1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTT=0.1425/914 (ALFA)
              T=0.4633/1715 (1000Genomes)
              HGVS:
              7.

              rs1490953207 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                21:42072187 (GRCh38)
                21:43492296 (GRCh37)
                Canonical SPDI:
                NC_000021.9:42072186:T:C
                Gene:
                UMODL1 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000019/5 (TOPMED)
                C=0.000021/3 (GnomAD)
                ...more
                HGVS:
                8.

                rs1490914580 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  21:42086753 (GRCh38)
                  21:43506863 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:42086752:G:A
                  Gene:
                  UMODL1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (TOPMED)
                  ...more
                  HGVS:
                  9.

                  rs1490908145 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    21:42073025 (GRCh38)
                    21:43493134 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:42073024:C:T
                    Gene:
                    UMODL1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000014/2 (GnomAD)
                    T=0.00006/16 (TOPMED)
                    ...more
                    HGVS:
                    10.

                    rs1490881568 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      21:42138861 (GRCh38)
                      21:43558971 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:42138860:C:G
                      Gene:
                      UMODL1 (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)
                      ...more
                      HGVS:
                      11.

                      rs1490876332 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        21:42117508 (GRCh38)
                        21:43537618 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:42117507:G:T
                        Gene:
                        UMODL1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490864674 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          21:42084815 (GRCh38)
                          21:43504925 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:42084814:C:T
                          Gene:
                          UMODL1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000019/5 (TOPMED)
                          T=0.000027/1 (GnomAD)
                          T=0.000156/1 (1000Genomes)
                          ...more
                          HGVS:
                          13.

                          rs1490857842 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            21:42089234 (GRCh38)
                            21:43509344 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:42089233:G:A
                            Gene:
                            UMODL1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.00022/1 (ALFA)
                            A=0.00004/1 (TOMMO)
                            A=0.00022/1 (Estonian)
                            ...more
                            HGVS:
                            14.

                            rs1490848600 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              21:42125907 (GRCh38)
                              21:43546017 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:42125906:C:T
                              Gene:
                              UMODL1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              ...more
                              HGVS:
                              15.

                              rs1490848405 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                21:42085873 (GRCh38)
                                21:43505983 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:42085872:G:C
                                Gene:
                                UMODL1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000014/2 (GnomAD)
                                C=0.00003/8 (TOPMED)
                                ...more
                                HGVS:
                                16.

                                rs1490835654 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  21:42074220 (GRCh38)
                                  21:43494329 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:42074219:T:C
                                  Gene:
                                  UMODL1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490821222 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    21:42099499 (GRCh38)
                                    21:43519609 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:42099498:A:G
                                    Gene:
                                    UMODL1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    ...more
                                    HGVS:
                                    18.

                                    rs1490812625 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      21:42125124 (GRCh38)
                                      21:43545234 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:42125123:C:G
                                      Gene:
                                      UMODL1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000008/2 (TOPMED)
                                      ...more
                                      HGVS:
                                      19.

                                      rs1490799484 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        21:42112557 (GRCh38)
                                        21:43532667 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:42112556:C:T
                                        Gene:
                                        UMODL1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1490694655 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          21:42065892 (GRCh38)
                                          21:43486001 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:42065891:T:C
                                          Gene:
                                          UMODL1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000011/3 (TOPMED)
                                          ...more
                                          HGVS:

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