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Items: 1 to 20 of 129

1.

rs1486791991 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    16:30200808 (GRCh38)
    16:30212129 (GRCh37)
    Canonical SPDI:
    NC_000016.10:30200807:C:T
    Gene:
    SULT1A3 (Varview), SLX1A-SULT1A3 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    2.

    rs1482921573 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      16:30200819 (GRCh38)
      16:30212140 (GRCh37)
      Canonical SPDI:
      NC_000016.10:30200818:C:G
      Gene:
      SULT1A3 (Varview), SLX1A-SULT1A3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant
      HGVS:
      3.

      rs1479863088 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        16:30203845 (GRCh38)
        16:30215166 (GRCh37)
        Canonical SPDI:
        NC_000016.10:30203844:G:A
        Gene:
        SULT1A3 (Varview), LOC613038 (Varview), SLX1A-SULT1A3 (Varview)
        Functional Consequence:
        500B_downstream_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.00017/2 (ALFA)
        A=0.00044/1 (KOREAN)
        HGVS:
        4.

        rs1479167023 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          16:30200985 (GRCh38)
          16:30212306 (GRCh37)
          Canonical SPDI:
          NC_000016.10:30200984:C:T
          Gene:
          SULT1A3 (Varview), SLX1A-SULT1A3 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
          HGVS:
          5.

          rs1477067521 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            16:30201091 (GRCh38)
            16:30212412 (GRCh37)
            Canonical SPDI:
            NC_000016.10:30201090:C:T
            Gene:
            SULT1A3 (Varview), SLX1A-SULT1A3 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.0002/9 (GnomAD_exomes)
            HGVS:
            6.

            rs1473781553 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:30203537 (GRCh38)
              16:30214858 (GRCh37)
              Canonical SPDI:
              NC_000016.10:30203536:G:A
              Gene:
              SULT1A3 (Varview), SLX1A-SULT1A3 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
              HGVS:
              7.

              rs1473318728 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                16:30201239 (GRCh38)
                16:30212560 (GRCh37)
                Canonical SPDI:
                NC_000016.10:30201238:G:T
                Gene:
                SULT1A3 (Varview), SLX1A-SULT1A3 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.00004/2 (GnomAD_exomes)
                HGVS:
                8.

                rs1463122474 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,G [Show Flanks]
                  Chromosome:
                  16:30200811 (GRCh38)
                  16:30212132 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:30200810:T:A,NC_000016.10:30200810:T:G
                  Gene:
                  SULT1A3 (Varview), SLX1A-SULT1A3 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  A=0.00002/1 (GnomAD_exomes)
                  G=0.00007/3 (GnomAD)
                  HGVS:
                  9.

                  rs1460306669 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:30203874 (GRCh38)
                    16:30215195 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:30203873:C:T
                    Gene:
                    SULT1A3 (Varview), LOC613038 (Varview), SLX1A-SULT1A3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.00073/13 (ALFA)
                    T=0.00076/15 (GnomAD)
                    T=0.00078/5 (1000Genomes)
                    HGVS:
                    10.

                    rs1459598813 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CT>- [Show Flanks]
                      Chromosome:
                      16:30201273 (GRCh38)
                      16:30212594 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:30201270:CTCT:CT
                      Gene:
                      SULT1A3 (Varview), SLX1A-SULT1A3 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CTCT=0./0 (ALFA)
                      -=0.00002/1 (GnomAD)
                      -=0.00047/3 (1000Genomes)
                      HGVS:
                      11.

                      rs1456230212 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        16:30203552 (GRCh38)
                        16:30214873 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:30203551:C:T
                        Gene:
                        SULT1A3 (Varview), SLX1A-SULT1A3 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.0001/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1454642439 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          16:30201197 (GRCh38)
                          16:30212518 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:30201196:G:A
                          Gene:
                          SULT1A3 (Varview), SLX1A-SULT1A3 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1453130163 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            CTTGAGGTCAAT>- [Show Flanks]
                            Chromosome:
                            16:30201076 (GRCh38)
                            16:30212397 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:30201075:CTTGAGGTCAAT:
                            Gene:
                            SULT1A3 (Varview), SLX1A-SULT1A3 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,inframe_deletion,coding_sequence_variant
                            HGVS:
                            14.

                            rs1451222772 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              G>- [Show Flanks]
                              Chromosome:
                              16:30203875 (GRCh38)
                              16:30215196 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:30203874:GG:G
                              Gene:
                              SULT1A3 (Varview), LOC613038 (Varview), SLX1A-SULT1A3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              GG=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1448943588 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                16:30201229 (GRCh38)
                                16:30212550 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:30201228:G:A
                                Gene:
                                SULT1A3 (Varview), SLX1A-SULT1A3 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.00008/1 (ALFA)
                                A=0.00089/15 (TOMMO)
                                A=0.00242/6 (KOREAN)
                                HGVS:
                                16.

                                rs1447149120 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C,T [Show Flanks]
                                  Chromosome:
                                  16:30200754 (GRCh38)
                                  16:30212075 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:30200753:G:A,NC_000016.10:30200753:G:C,NC_000016.10:30200753:G:T
                                  Gene:
                                  SULT1A3 (Varview), SLX1A-SULT1A3 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.00008/1 (ALFA)
                                  A=0.00011/8 (GnomAD_exomes)
                                  A=0.00019/13 (GnomAD)
                                  G=0.5/1 (SGDP_PRJ)
                                  HGVS:
                                  17.

                                  rs1433641597 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    16:30203840 (GRCh38)
                                    16:30215161 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:30203839:G:A
                                    Gene:
                                    SULT1A3 (Varview), LOC613038 (Varview), SLX1A-SULT1A3 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1433240187 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      16:30203860 (GRCh38)
                                      16:30215181 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:30203859:C:G,NC_000016.10:30203859:C:T
                                      Gene:
                                      SULT1A3 (Varview), LOC613038 (Varview), SLX1A-SULT1A3 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1432211275 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        16:30201277 (GRCh38)
                                        16:30212598 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:30201276:T:C,NC_000016.10:30201276:T:G
                                        Gene:
                                        SULT1A3 (Varview), SLX1A-SULT1A3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.00008/1 (ALFA)
                                        HGVS:
                                        20.

                                        rs1431615915 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G,T [Show Flanks]
                                          Chromosome:
                                          16:30203865 (GRCh38)
                                          16:30215186 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:30203864:C:A,NC_000016.10:30203864:C:G,NC_000016.10:30203864:C:T
                                          Gene:
                                          SULT1A3 (Varview), LOC613038 (Varview), SLX1A-SULT1A3 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          T=0.00013/2 (GnomAD)
                                          T=0.00031/2 (1000Genomes)
                                          HGVS:

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