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Items: 1 to 20 of 4406

1.

rs1491497832 has merged into rs1326284749 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>-,GAGAGA [Show Flanks]
    Chromosome:
    3:122333543 (GRCh38)
    3:122052390 (GRCh37)
    Canonical SPDI:
    NC_000003.12:122333541:AGA:A,NC_000003.12:122333541:AGA:AGAGAGA
    Gene:
    CSTA (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AGAGAGA=0./0 (ALFA)
    AGAG=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1491342307 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      3:122340944 (GRCh38)
      3:122059791 (GRCh37)
      Canonical SPDI:
      NC_000003.12:122340943:AT:
      Gene:
      CSTA (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000022/1 (GnomAD)
      HGVS:
      3.

      rs1491293069 has merged into rs11338611 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
        Chromosome:
        3:122340957 (GRCh38)
        3:122059804 (GRCh37)
        Canonical SPDI:
        NC_000003.12:122340944:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:122340944:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:122340944:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:122340944:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:122340944:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
        Gene:
        CSTA (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTT=0.0011/5 (ALFA)
        -=0.0394/152 (ALSPAC)
        T=0.4934/2471 (1000Genomes)
        HGVS:
        4.

        rs1491184000 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->AA,AAGAAA,AAGAAAGAAA,AAGAAAGAAAGAAA,AAGAAAGAGAAAGAAAGAGAAAGAAA,AAGAGAAA [Show Flanks]
          Chromosome:
          3:122333734 (GRCh38)
          3:122052582 (GRCh37)
          Canonical SPDI:
          NC_000003.12:122333734:A:AAA,NC_000003.12:122333734:A:AAAGAAA,NC_000003.12:122333734:A:AAAGAAAGAAA,NC_000003.12:122333734:A:AAAGAAAGAAAGAAA,NC_000003.12:122333734:A:AAAGAAAGAGAAAGAAAGAGAAAGAAA,NC_000003.12:122333734:A:AAAGAGAAA
          Gene:
          CSTA (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAGAAA=0./0 (ALFA)
          HGVS:
          5.

          rs1491076541 has merged into rs869158187 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            A>-,AAA [Show Flanks]
            Chromosome:
            3:122333731 (GRCh38)
            3:122052578 (GRCh37)
            Canonical SPDI:
            NC_000003.12:122333730:AAA:AA,NC_000003.12:122333730:AAA:AAAAA
            Gene:
            CSTA (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            AA=0.00049/50 (GnomAD)
            HGVS:
            6.

            rs1491017630 has merged into rs58446448 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              3:122338509 (GRCh38)
              3:122057356 (GRCh37)
              Canonical SPDI:
              NC_000003.12:122338499:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:122338499:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:122338499:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:122338499:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:122338499:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:122338499:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:122338499:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:122338499:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:122338499:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:122338499:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:122338499:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:122338499:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:122338499:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:122338499:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:122338499:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              CSTA (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAA=0./0 (ALFA)
              A=0./0 (ALSPAC)
              A=0./0 (TWINSUK)
              A=0.101/506 (1000Genomes)
              HGVS:
              NC_000003.12:g.122338509_122338515del, NC_000003.12:g.122338510_122338515del, NC_000003.12:g.122338511_122338515del, NC_000003.12:g.122338512_122338515del, NC_000003.12:g.122338513_122338515del, NC_000003.12:g.122338514_122338515del, NC_000003.12:g.122338515del, NC_000003.12:g.122338515dup, NC_000003.12:g.122338514_122338515dup, NC_000003.12:g.122338513_122338515dup, NC_000003.12:g.122338512_122338515dup, NC_000003.12:g.122338511_122338515dup, NC_000003.12:g.122338510_122338515dup, NC_000003.12:g.122338509_122338515dup, NC_000003.12:g.122338508_122338515dup, NC_000003.11:g.122057356_122057362del, NC_000003.11:g.122057357_122057362del, NC_000003.11:g.122057358_122057362del, NC_000003.11:g.122057359_122057362del, NC_000003.11:g.122057360_122057362del, NC_000003.11:g.122057361_122057362del, NC_000003.11:g.122057362del, NC_000003.11:g.122057362dup, NC_000003.11:g.122057361_122057362dup, NC_000003.11:g.122057360_122057362dup, NC_000003.11:g.122057359_122057362dup, NC_000003.11:g.122057358_122057362dup, NC_000003.11:g.122057357_122057362dup, NC_000003.11:g.122057356_122057362dup, NC_000003.11:g.122057355_122057362dup, NG_027995.1:g.18346_18352del, NG_027995.1:g.18347_18352del, NG_027995.1:g.18348_18352del, NG_027995.1:g.18349_18352del, NG_027995.1:g.18350_18352del, NG_027995.1:g.18351_18352del, NG_027995.1:g.18352del, NG_027995.1:g.18352dup, NG_027995.1:g.18351_18352dup, NG_027995.1:g.18350_18352dup, NG_027995.1:g.18349_18352dup, NG_027995.1:g.18348_18352dup, NG_027995.1:g.18347_18352dup, NG_027995.1:g.18346_18352dup, NG_027995.1:g.18345_18352dup
              7.

              rs1490810111 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                3:122336338 (GRCh38)
                3:122055185 (GRCh37)
                Canonical SPDI:
                NC_000003.12:122336337:G:A
                Gene:
                CSTA (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490647667 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  3:122336941 (GRCh38)
                  3:122055788 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:122336940:A:G
                  Gene:
                  CSTA (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000008/2 (TOPMED)
                  G=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490445754 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    3:122332730 (GRCh38)
                    3:122051577 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:122332729:T:C
                    Gene:
                    CSTA (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490396690 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      3:122330033 (GRCh38)
                      3:122048880 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:122330032:A:G
                      Gene:
                      CSTA (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1490372605 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        3:122334461 (GRCh38)
                        3:122053308 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:122334460:G:T
                        Gene:
                        CSTA (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1490132326 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G,T [Show Flanks]
                          Chromosome:
                          3:122328271 (GRCh38)
                          3:122047118 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:122328270:C:A,NC_000003.12:122328270:C:G,NC_000003.12:122328270:C:T
                          Gene:
                          CSTA (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000043/6 (GnomAD)
                          G=0.000119/2 (TOMMO)
                          T=0.009346/2 (Vietnamese)
                          HGVS:
                          13.

                          rs1490115326 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->GA [Show Flanks]
                            Chromosome:
                            3:122330292 (GRCh38)
                            3:122049140 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:122330292::GA
                            Gene:
                            CSTA (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency
                            MAF:
                            GA=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489936311 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:122329507 (GRCh38)
                              3:122048354 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:122329506:A:G
                              Gene:
                              CSTA (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1489882540 [Homo sapiens]
                                Variant type:
                                SNV:
                                Alleles:
                                GAAAAGGAAAGGAA>-
                                Chromosome:
                                no mapping
                                Canonical SPDI:
                                16.

                                rs1489776819 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  3:122328403 (GRCh38)
                                  3:122047250 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:122328402:G:A
                                  Gene:
                                  CSTA (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489610848 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    3:122339794 (GRCh38)
                                    3:122058641 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:122339793:G:T
                                    Gene:
                                    CSTA (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489162120 has merged into rs146680735 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AA>-,A,AAA,AAAA [Show Flanks]
                                      Chromosome:
                                      3:122342361 (GRCh38)
                                      3:122061208 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:122342350:AAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:122342350:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:122342350:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:122342350:AAAAAAAAAAAA:AAAAAAAAAAAAAA
                                      Gene:
                                      CSTA (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAAAAAAA=0./0 (ALFA)
                                      -=0.075/3 (GENOME_DK)
                                      HGVS:
                                      19.

                                      rs1489092180 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        3:122323732 (GRCh38)
                                        3:122042579 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:122323731:C:T
                                        Gene:
                                        CSTA (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1488786042 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          C>- [Show Flanks]
                                          Chromosome:
                                          3:122328499 (GRCh38)
                                          3:122047346 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:122328498:C:
                                          Gene:
                                          CSTA (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          -=0./0 (ALFA)
                                          HGVS:

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