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Items: 1 to 20 of 6047

1.

rs1491419195 has merged into rs201006604 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    2:108241936 (GRCh38)
    2:108858392 (GRCh37)
    Canonical SPDI:
    NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:108241926:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    SULT1C3 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAA=0./0 (ALFA)
    -=0.371/1858 (1000Genomes)
    HGVS:
    NC_000002.12:g.108241936_108241945del, NC_000002.12:g.108241939_108241945del, NC_000002.12:g.108241941_108241945del, NC_000002.12:g.108241942_108241945del, NC_000002.12:g.108241943_108241945del, NC_000002.12:g.108241944_108241945del, NC_000002.12:g.108241945del, NC_000002.12:g.108241945dup, NC_000002.12:g.108241944_108241945dup, NC_000002.12:g.108241943_108241945dup, NC_000002.12:g.108241941_108241945dup, NC_000002.11:g.108858392_108858401del, NC_000002.11:g.108858395_108858401del, NC_000002.11:g.108858397_108858401del, NC_000002.11:g.108858398_108858401del, NC_000002.11:g.108858399_108858401del, NC_000002.11:g.108858400_108858401del, NC_000002.11:g.108858401del, NC_000002.11:g.108858401dup, NC_000002.11:g.108858400_108858401dup, NC_000002.11:g.108858399_108858401dup, NC_000002.11:g.108858397_108858401dup
    2.

    rs1491299198 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CA [Show Flanks]
      Chromosome:
      2:108254718 (GRCh38)
      2:108871175 (GRCh37)
      Canonical SPDI:
      NC_000002.12:108254718:A:ACA
      Gene:
      SULT1C3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      ACA=0.00128/15 (ALFA)
      HGVS:
      3.

      rs1491202753 has merged into rs1281464827 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AT>-,ATAT [Show Flanks]
        Chromosome:
        2:108254725 (GRCh38)
        2:108871181 (GRCh37)
        Canonical SPDI:
        NC_000002.12:108254717:TATATATAT:TATATAT,NC_000002.12:108254717:TATATATAT:TATATATATAT
        Gene:
        SULT1C3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TATATATATAT=0./0 (ALFA)
        HGVS:
        4.

        rs1491140025 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          2:108241926 (GRCh38)
          2:108858382 (GRCh37)
          Canonical SPDI:
          NC_000002.12:108241925:CA:
          Gene:
          SULT1C3 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00059/7 (ALFA)
          HGVS:
          5.

          rs1490848706 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            2:108261452 (GRCh38)
            2:108877908 (GRCh37)
            Canonical SPDI:
            NC_000002.12:108261451:T:C
            Gene:
            SULT1C3 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490799328 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              2:108244234 (GRCh38)
              2:108860690 (GRCh37)
              Canonical SPDI:
              NC_000002.12:108244233:A:G
              Gene:
              SULT1C3 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490797268 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                2:108241713 (GRCh38)
                2:108858169 (GRCh37)
                Canonical SPDI:
                NC_000002.12:108241712:G:A,NC_000002.12:108241712:G:T
                Gene:
                SULT1C3 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490720901 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  2:108239390 (GRCh38)
                  2:108855846 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:108239389:C:G
                  Gene:
                  SULT1C3 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.000084/1 (ALFA)
                  G=0.000121/13 (GnomAD)
                  HGVS:
                  9.

                  rs1490331901 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    2:108253557 (GRCh38)
                    2:108870013 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:108253556:A:C
                    Gene:
                    SULT1C3 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490305578 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:108242705 (GRCh38)
                      2:108859161 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:108242704:A:G
                      Gene:
                      SULT1C3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490285860 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ATGTATATAT>-,ATGTATATATATGTATATAT [Show Flanks]
                        Chromosome:
                        2:108254725 (GRCh38)
                        2:108871181 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:108254713:TATGTATATATATGTATATAT:TATGTATATAT,NC_000002.12:108254713:TATGTATATATATGTATATAT:TATGTATATATATGTATATATATGTATATAT
                        Gene:
                        SULT1C3 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TATGTATATATATGTATATATATGTATATAT=0./0 (ALFA)
                        TATGTATATA=0.000004/1 (TOPMED)
                        TATGTATATA=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490147282 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          2:108263034 (GRCh38)
                          2:108879490 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:108263033:C:T
                          Gene:
                          SULT1C3 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1489890291 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            2:108263413 (GRCh38)
                            2:108879869 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:108263412:C:G
                            Gene:
                            SULT1C3 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489870099 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:108260992 (GRCh38)
                              2:108877448 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:108260991:C:T
                              Gene:
                              SULT1C3 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1489869989 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                2:108262516 (GRCh38)
                                2:108878972 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:108262515:G:T
                                Gene:
                                SULT1C3 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1489695265 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  2:108266064 (GRCh38)
                                  2:108882520 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:108266063:A:G
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000224/1 (ALFA)
                                  G=0.000014/2 (GnomAD)
                                  G=0.000223/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1489688772 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    2:108241675 (GRCh38)
                                    2:108858131 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:108241674:C:G,NC_000002.12:108241674:C:T
                                    Gene:
                                    SULT1C3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    G=0.000011/3 (TOPMED)
                                    G=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489664906 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->A [Show Flanks]
                                      Chromosome:
                                      2:108263449 (GRCh38)
                                      2:108879906 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:108263449:A:AA
                                      Gene:
                                      SULT1C3 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AA=0.000071/1 (ALFA)
                                      A=0.000015/4 (TOPMED)
                                      A=0.000029/4 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489597354 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:108251769 (GRCh38)
                                        2:108868225 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:108251768:A:G
                                        Gene:
                                        SULT1C3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000026/7 (TOPMED)
                                        G=0.000036/5 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489578190 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          2:108245497 (GRCh38)
                                          2:108861953 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:108245496:A:G
                                          Gene:
                                          SULT1C3 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000011/3 (TOPMED)
                                          G=0.000021/3 (GnomAD)
                                          HGVS:

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