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Links from Nucleotide

Items: 1 to 20 of 291

1.

rs1483791202 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    2:233755291 (GRCh38)
    2:234663937 (GRCh37)
    Canonical SPDI:
    NC_000002.12:233755290:C:A,NC_000002.12:233755290:C:G,NC_000002.12:233755290:C:T
    Gene:
    UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    HGVS:
    2.

    rs1479189467 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      2:233754367 (GRCh38)
      2:234663013 (GRCh37)
      Canonical SPDI:
      NC_000002.12:233754366:T:C
      Gene:
      UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.00086/14 (ALFA)
      C=0.00016/1 (1000Genomes)
      HGVS:
      3.

      rs1478561208 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        2:233755206 (GRCh38)
        2:234663852 (GRCh37)
        Canonical SPDI:
        NC_000002.12:233755205:C:T
        Gene:
        UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1476325648 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          2:233754395 (GRCh38)
          2:234663041 (GRCh37)
          Canonical SPDI:
          NC_000002.12:233754394:C:T
          Gene:
          UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1475271740 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            G>- [Show Flanks]
            Chromosome:
            2:233755024 (GRCh38)
            2:234663670 (GRCh37)
            Canonical SPDI:
            NC_000002.12:233755023:GGG:GG
            Gene:
            UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GG=0./0 (ALFA)
            -=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1473276470 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->A [Show Flanks]
              Chromosome:
              2:233755215 (GRCh38)
              2:234663862 (GRCh37)
              Canonical SPDI:
              NC_000002.12:233755215:A:AA
              Gene:
              UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1468695441 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G,T [Show Flanks]
                Chromosome:
                2:233755285 (GRCh38)
                2:234663931 (GRCh37)
                Canonical SPDI:
                NC_000002.12:233755284:A:C,NC_000002.12:233755284:A:G,NC_000002.12:233755284:A:T
                Gene:
                UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                HGVS:
                8.

                rs1463963826 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  2:233754596 (GRCh38)
                  2:234663242 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:233754595:T:C
                  Gene:
                  UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1457699650 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    2:233755317 (GRCh38)
                    2:234663963 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:233755316:G:C
                    Gene:
                    UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,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:
                    10.

                    rs1457280659 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->GCCC [Show Flanks]
                      Chromosome:
                      2:233755049 (GRCh38)
                      2:234663696 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:233755049:CCGCCC:CCGCCCGCCC
                      Gene:
                      UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      CCGC=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1455316487 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        2:233755015 (GRCh38)
                        2:234663661 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:233755014:G:C
                        Gene:
                        UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1453743616 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          2:233754530 (GRCh38)
                          2:234663176 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:233754529:T:A
                          Gene:
                          UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000011/3 (TOPMED)
                          A=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1452134349 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:233755198 (GRCh38)
                            2:234663844 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:233755197:G:A
                            Gene:
                            UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1448845057 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              2:233755199 (GRCh38)
                              2:234663845 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:233755198:C:A,NC_000002.12:233755198:C:T
                              Gene:
                              UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1448703507 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:233754560 (GRCh38)
                                2:234663206 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:233754559:G:A
                                Gene:
                                UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1446965337 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C,T [Show Flanks]
                                  Chromosome:
                                  2:233754712 (GRCh38)
                                  2:234663358 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:233754711:G:A,NC_000002.12:233754711:G:C,NC_000002.12:233754711:G:T
                                  Gene:
                                  UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.000014/2 (GnomAD_exomes)
                                  C=0.002729/5 (Korea1K)
                                  HGVS:
                                  17.

                                  rs1444535739 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:233754719 (GRCh38)
                                    2:234663365 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:233754718:G:A
                                    Gene:
                                    UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1444380130 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:233754789 (GRCh38)
                                      2:234663435 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:233754788:A:G
                                      Gene:
                                      UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000006/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1442150755 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        2:233755261 (GRCh38)
                                        2:234663907 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:233755260:G:C
                                        Gene:
                                        UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1442095371 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          2:233754743 (GRCh38)
                                          2:234663389 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:233754742:C:A
                                          Gene:
                                          UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          HGVS:

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