Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 1598

1.

rs1491180684 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    21:43774280 (GRCh38)
    21:45194162 (GRCh37)
    Canonical SPDI:
    NC_000021.9:43774280:A:AA
    Gene:
    CSTB (Varview)
    Functional Consequence:
    coding_sequence_variant,frameshift_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AA=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000008/1 (ExAC)
    HGVS:
    2.

    rs1490841374 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      21:43775615 (GRCh38)
      21:45195496 (GRCh37)
      Canonical SPDI:
      NC_000021.9:43775614:G:A
      Gene:
      CSTB (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0./0 (GnomAD)
      A=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490671201 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        21:43776471 (GRCh38)
        21:45196352 (GRCh37)
        Canonical SPDI:
        NC_000021.9:43776470:G:A
        Gene:
        CSTB (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.00001/1 (GnomAD)
        HGVS:
        4.

        rs1490265206 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          21:43776888 (GRCh38)
          21:45196769 (GRCh37)
          Canonical SPDI:
          NC_000021.9:43776887:G:A
          Gene:
          CSTB (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489874535 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            21:43776626 (GRCh38)
            21:45196507 (GRCh37)
            Canonical SPDI:
            NC_000021.9:43776625:G:T
            Gene:
            CSTB (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000071/1 (ALFA)
            T=0.00003/8 (TOPMED)
            T=0.000036/5 (GnomAD)
            HGVS:
            6.

            rs1488916541 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              21:43776972 (GRCh38)
              21:45196853 (GRCh37)
              Canonical SPDI:
              NC_000021.9:43776971:C:G,NC_000021.9:43776971:C:T
              Gene:
              CSTB (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1488505502 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                21:43773875 (GRCh38)
                21:45193756 (GRCh37)
                Canonical SPDI:
                NC_000021.9:43773874:C:T
                Gene:
                CSTB (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1488273334 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  21:43777412 (GRCh38)
                  21:45197293 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:43777411:C:G,NC_000021.9:43777411:C:T
                  Gene:
                  CSTB (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000194/27 (GnomAD)
                  HGVS:
                  9.

                  rs1488263158 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    21:43777256 (GRCh38)
                    21:45197137 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:43777255:T:A
                    Gene:
                    CSTB (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1488010250 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      21:43777121 (GRCh38)
                      21:45197002 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:43777120:G:C
                      Gene:
                      CSTB (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000015/2 (GnomAD)
                      HGVS:
                      11.

                      rs1487731069 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        21:43776318 (GRCh38)
                        21:45196199 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:43776317:C:T
                        Gene:
                        CSTB (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1487462493 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          21:43777208 (GRCh38)
                          21:45197089 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:43777207:C:G
                          Gene:
                          CSTB (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1487271257 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            21:43774340 (GRCh38)
                            21:45194221 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:43774339:G:C
                            Gene:
                            CSTB (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1487186093 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              21:43777476 (GRCh38)
                              21:45197357 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:43777475:C:G,NC_000021.9:43777475:C:T
                              Gene:
                              CSTB (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1486584267 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                G>- [Show Flanks]
                                Chromosome:
                                21:43773699 (GRCh38)
                                21:45193580 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:43773698:GG:G
                                Gene:
                                CSTB (Varview)
                                Functional Consequence:
                                500B_downstream_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GG=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1485823721 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G [Show Flanks]
                                  Chromosome:
                                  21:43774203 (GRCh38)
                                  21:45194084 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:43774202:C:A,NC_000021.9:43774202:C:G
                                  Gene:
                                  CSTB (Varview)
                                  Functional Consequence:
                                  stop_lost,terminator_codon_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  G=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1484953182 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    21:43774073 (GRCh38)
                                    21:45193954 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:43774072:C:A
                                    Gene:
                                    CSTB (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1483473493 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      TTTTTTTGA>- [Show Flanks]
                                      Chromosome:
                                      21:43777002 (GRCh38)
                                      21:45196883 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:43777001:TTTTTTTGA:
                                      Gene:
                                      CSTB (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      -=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1482544907 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        21:43776088 (GRCh38)
                                        21:45195969 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:43776087:G:A
                                        Gene:
                                        CSTB (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000011/3 (TOPMED)
                                        A=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1482436975 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          21:43774950 (GRCh38)
                                          21:45194831 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:43774949:A:G
                                          Gene:
                                          CSTB (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:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...
                                          Support Center