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Items: 1 to 20 of 3531

1.

rs1491356249 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    TT>-
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491157827 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      12:113403970 (GRCh38)
      12:113841776 (GRCh37)
      Canonical SPDI:
      NC_000012.12:113403970:T:TT
      Gene:
      SDS (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TT=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490861241 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        12:113393121 (GRCh38)
        12:113830926 (GRCh37)
        Canonical SPDI:
        NC_000012.12:113393120:G:C
        Gene:
        SDS (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490848098 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          12:113394171 (GRCh38)
          12:113831976 (GRCh37)
          Canonical SPDI:
          NC_000012.12:113394170:A:G
          Gene:
          SDS (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:
          5.

          rs1490831728 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->TTTTTCCT,TTTTTTCCT [Show Flanks]
            Chromosome:
            12:113396491 (GRCh38)
            12:113834297 (GRCh37)
            Canonical SPDI:
            NC_000012.12:113396491:TTTCCT:TTTCCTTTTTTCCT,NC_000012.12:113396491:TTTCCT:TTTCCTTTTTTTCCT
            Gene:
            SDS (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTCCTTTTTTCCT=0./0 (ALFA)
            TTTCCTTT=0.000008/1 (GnomAD)
            HGVS:
            6.

            rs1490676193 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              12:113395695 (GRCh38)
              12:113833500 (GRCh37)
              Canonical SPDI:
              NC_000012.12:113395694:G:A
              Gene:
              SDS (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000253/3 (ALFA)
              A=0.000029/4 (GnomAD)
              A=0.00003/8 (TOPMED)
              HGVS:
              7.

              rs1490391976 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AC>- [Show Flanks]
                Chromosome:
                12:113400607 (GRCh38)
                12:113838412 (GRCh37)
                Canonical SPDI:
                NC_000012.12:113400599:CACACACAC:CACACAC
                Gene:
                SDS (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CACACAC=0./0 (ALFA)
                -=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1490046812 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:113402279 (GRCh38)
                  12:113840084 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:113402278:A:G
                  Gene:
                  SDS (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:
                  9.

                  rs1489657142 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    C>- [Show Flanks]
                    Chromosome:
                    12:113396501 (GRCh38)
                    12:113834306 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:113396500:CC:C
                    Gene:
                    SDS (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    CC=0./0 (ALFA)
                    -=0.00084/14 (TOMMO)
                    -=0.00135/58 (GnomAD)
                    -=0.00168/1 (NorthernSweden)
                    HGVS:
                    10.

                    rs1489631965 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      12:113395909 (GRCh38)
                      12:113833714 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:113395908:C:T
                      Gene:
                      SDS (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0./0 (GnomAD)
                      T=0.00003/8 (TOPMED)
                      T=0.00006/1 (TOMMO)
                      HGVS:
                      11.

                      rs1488999163 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->AA [Show Flanks]
                        Chromosome:
                        12:113393355 (GRCh38)
                        12:113831161 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:113393355:AA:AAAA
                        Gene:
                        SDS (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAA=0./0 (ALFA)
                        AA=0.000015/4 (TOPMED)
                        AA=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1488610663 has merged into rs34921153 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
                          Chromosome:
                          12:113405741 (GRCh38)
                          12:113843546 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:113405731:AAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:113405731:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:113405731:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:113405731:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:113405731:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:113405731:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
                          Gene:
                          SDS (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAAAAA=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.028428/17 (NorthernSweden)
                          -=0.25/10 (GENOME_DK)
                          HGVS:
                          13.

                          rs1488400618 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            12:113394040 (GRCh38)
                            12:113831845 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:113394039:G:A
                            Gene:
                            SDS (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000021/3 (GnomAD)
                            A=0.00003/8 (TOPMED)
                            HGVS:
                            14.

                            rs1488347818 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              12:113400145 (GRCh38)
                              12:113837950 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:113400144:T:C
                              Gene:
                              SDS (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1488344416 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                12:113404753 (GRCh38)
                                12:113842558 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:113404752:C:T
                                Gene:
                                SDS (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_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.

                                rs1487970071 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  12:113401105 (GRCh38)
                                  12:113838910 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:113401104:C:T
                                  Gene:
                                  SDS (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1487396870 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    12:113392277 (GRCh38)
                                    12:113830082 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:113392276:C:T
                                    Gene:
                                    SDS (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1486855573 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      12:113397073 (GRCh38)
                                      12:113834878 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:113397072:C:G
                                      Gene:
                                      SDS (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)
                                      HGVS:
                                      19.

                                      rs1486655221 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        12:113404453 (GRCh38)
                                        12:113842258 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:113404452:G:A
                                        Gene:
                                        SDS (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1486396313 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AG>- [Show Flanks]
                                          Chromosome:
                                          12:113402872 (GRCh38)
                                          12:113840677 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:113402870:GAG:G
                                          Gene:
                                          SDS (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          HGVS:

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