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Items: 1 to 20 of 9002

1.

rs1049216 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    4:184628935 (GRCh38)
    4:185550089 (GRCh37)
    Canonical SPDI:
    NC_000004.12:184628934:A:G
    Gene:
    CASP3 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.253457/5755 (ALFA)
    A=0.142857/30 (Vietnamese)
    A=0.181769/333 (Korea1K)
    A=0.187372/549 (KOREAN)
    G=0.189139/101 (MGP)
    G=0.189815/41 (Qatari)
    A=0.190601/146 (PRJEB37584)
    G=0.2/8 (GENOME_DK)
    A=0.201111/3371 (TOMMO)
    G=0.236667/142 (NorthernSweden)
    G=0.247495/247 (GoNL)
    A=0.25/10 (Siberian)
    G=0.262675/974 (TWINSUK)
    G=0.263896/36976 (GnomAD)
    G=0.266071/1192 (Estonian)
    G=0.276855/1067 (ALSPAC)
    A=0.281081/104 (SGDP_PRJ)
    G=0.291035/77034 (TOPMED)
    G=0.354173/27872 (PAGE_STUDY)
    G=0.389756/1952 (1000Genomes)
    HGVS:

    PubMedLitVar

    2.

    rs146285839 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      4:184632273 (GRCh38)
      4:185553427 (GRCh37)
      Canonical SPDI:
      NC_000004.12:184632272:C:T
      Gene:
      CASP3 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Clinical significance:
      likely-benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000125/24 (ALFA)
      T=0.00022/55 (GnomAD_exomes)
      T=0.000296/34 (ExAC)
      T=0.000615/8 (GoESP)
      T=0.000937/5 (1000Genomes)
      T=0.00105/278 (TOPMED)
      T=0.001056/148 (GnomAD)
      T=0.001474/116 (PAGE_STUDY)
      HGVS:
      NC_000004.12:g.184632273C>T, NC_000004.11:g.185553427C>T, NM_004346.4:c.302G>A, NM_004346.3:c.302G>A, NM_032991.3:c.302G>A, NM_032991.2:c.302G>A, NM_001354783.2:c.329G>A, NM_001354783.1:c.329G>A, NM_001354780.2:c.224G>A, NM_001354780.1:c.224G>A, NM_001354777.2:c.302G>A, NM_001354777.1:c.302G>A, NM_001354782.2:c.302G>A, NM_001354782.1:c.302G>A, NM_001354779.2:c.224G>A, NM_001354779.1:c.224G>A, NM_001354781.2:c.302G>A, NM_001354781.1:c.302G>A, NM_001354784.2:c.224G>A, NM_001354784.1:c.224G>A, XM_047416236.1:c.302G>A, XM_047416238.1:c.302G>A, XM_047416237.1:c.302G>A, XM_047416239.1:c.302G>A, NM_001354778.1:c.302G>A, NP_004337.2:p.Arg101His, NP_116786.1:p.Arg101His, NP_001341712.1:p.Arg110His, NP_001341709.1:p.Arg75His, NP_001341706.1:p.Arg101His, NP_001341711.1:p.Arg101His, NP_001341708.1:p.Arg75His, NP_001341710.1:p.Arg101His, NP_001341713.1:p.Arg75His, XP_047272192.1:p.Arg101His, XP_047272194.1:p.Arg101His, XP_047272193.1:p.Arg101His, XP_047272195.1:p.Arg101His

      3.

      rs200927820 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        4:184629416 (GRCh38)
        4:185550570 (GRCh37)
        Canonical SPDI:
        NC_000004.12:184629415:A:C
        Gene:
        CASP3 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
        Clinical significance:
        likely-benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000158/7 (ALFA)
        C=0.00014/17 (ExAC)
        C=0.000154/2 (GoESP)
        C=0.000156/1 (1000Genomes)
        C=0.000251/63 (GnomAD_exomes)
        C=0.000366/97 (TOPMED)
        C=0.000371/52 (GnomAD)
        HGVS:

        4.

        rs1318834542 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          4:184631143 (GRCh38)
          4:185552297 (GRCh37)
          Canonical SPDI:
          NC_000004.12:184631142:T:C,NC_000004.12:184631142:T:G
          Gene:
          CASP3 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,intron_variant
          Clinical significance:
          likely-benign
          HGVS:
          NC_000004.12:g.184631143T>C, NC_000004.12:g.184631143T>G, NC_000004.11:g.185552297T>C, NC_000004.11:g.185552297T>G, NM_004346.4:c.498A>G, NM_004346.4:c.498A>C, NM_004346.3:c.498A>G, NM_004346.3:c.498A>C, NM_032991.3:c.498A>G, NM_032991.3:c.498A>C, NM_032991.2:c.498A>G, NM_032991.2:c.498A>C, NM_001354780.2:c.420A>G, NM_001354780.2:c.420A>C, NM_001354780.1:c.420A>G, NM_001354780.1:c.420A>C, NM_001354777.2:c.498A>G, NM_001354777.2:c.498A>C, NM_001354777.1:c.498A>G, NM_001354777.1:c.498A>C, NM_001354779.2:c.420A>G, NM_001354779.2:c.420A>C, NM_001354779.1:c.420A>G, NM_001354779.1:c.420A>C, XM_047416236.1:c.498A>G, XM_047416236.1:c.498A>C, XM_047416238.1:c.498A>G, XM_047416238.1:c.498A>C, XM_047416237.1:c.498A>G, XM_047416237.1:c.498A>C, XM_047416239.1:c.498A>G, XM_047416239.1:c.498A>C, NM_001354778.1:c.498A>G, NM_001354778.1:c.498A>C

          5.

          rs1741990588 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            ACT>- [Show Flanks]
            Chromosome:
            4:184631113 (GRCh38)
            4:185552267 (GRCh37)
            Canonical SPDI:
            NC_000004.12:184631112:ACT:
            Gene:
            CASP3 (Varview)
            Functional Consequence:
            coding_sequence_variant,inframe_deletion,intron_variant
            Clinical significance:
            uncertain-significance
            Validated:
            by frequency,by alfa
            MAF:
            -=0.000084/1 (ALFA)
            -=0.000008/2 (TOPMED)
            HGVS:

            6.

            rs61184817 has merged into rs1049216 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              4:184628935 (GRCh38)
              4:185550089 (GRCh37)
              Canonical SPDI:
              NC_000004.12:184628934:A:G
              Gene:
              CASP3 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Clinical significance:
              benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.253457/5755 (ALFA)
              A=0.142857/30 (Vietnamese)
              A=0.181769/333 (Korea1K)
              A=0.187372/549 (KOREAN)
              G=0.189139/101 (MGP)
              G=0.189815/41 (Qatari)
              A=0.190601/146 (PRJEB37584)
              G=0.2/8 (GENOME_DK)
              A=0.201111/3371 (TOMMO)
              G=0.236667/142 (NorthernSweden)
              G=0.247495/247 (GoNL)
              A=0.25/10 (Siberian)
              G=0.262675/974 (TWINSUK)
              G=0.263896/36976 (GnomAD)
              G=0.266071/1192 (Estonian)
              G=0.276855/1067 (ALSPAC)
              A=0.281081/104 (SGDP_PRJ)
              G=0.291035/77034 (TOPMED)
              G=0.354173/27872 (PAGE_STUDY)
              G=0.389756/1952 (1000Genomes)
              HGVS:

              7.

              rs17511681 has merged into rs1049216 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                4:184628935 (GRCh38)
                4:185550089 (GRCh37)
                Canonical SPDI:
                NC_000004.12:184628934:A:G
                Gene:
                CASP3 (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Clinical significance:
                benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.253457/5755 (ALFA)
                A=0.142857/30 (Vietnamese)
                A=0.181769/333 (Korea1K)
                A=0.187372/549 (KOREAN)
                G=0.189139/101 (MGP)
                G=0.189815/41 (Qatari)
                A=0.190601/146 (PRJEB37584)
                G=0.2/8 (GENOME_DK)
                A=0.201111/3371 (TOMMO)
                G=0.236667/142 (NorthernSweden)
                G=0.247495/247 (GoNL)
                A=0.25/10 (Siberian)
                G=0.262675/974 (TWINSUK)
                G=0.263896/36976 (GnomAD)
                G=0.266071/1192 (Estonian)
                G=0.276855/1067 (ALSPAC)
                A=0.281081/104 (SGDP_PRJ)
                G=0.291035/77034 (TOPMED)
                G=0.354173/27872 (PAGE_STUDY)
                G=0.389756/1952 (1000Genomes)
                HGVS:

                8.

                rs17488981 has merged into rs1049216 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  4:184628935 (GRCh38)
                  4:185550089 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:184628934:A:G
                  Gene:
                  CASP3 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Clinical significance:
                  benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.253457/5755 (ALFA)
                  A=0.142857/30 (Vietnamese)
                  A=0.181769/333 (Korea1K)
                  A=0.187372/549 (KOREAN)
                  G=0.189139/101 (MGP)
                  G=0.189815/41 (Qatari)
                  A=0.190601/146 (PRJEB37584)
                  G=0.2/8 (GENOME_DK)
                  A=0.201111/3371 (TOMMO)
                  G=0.236667/142 (NorthernSweden)
                  G=0.247495/247 (GoNL)
                  A=0.25/10 (Siberian)
                  G=0.262675/974 (TWINSUK)
                  G=0.263896/36976 (GnomAD)
                  G=0.266071/1192 (Estonian)
                  G=0.276855/1067 (ALSPAC)
                  A=0.281081/104 (SGDP_PRJ)
                  G=0.291035/77034 (TOPMED)
                  G=0.354173/27872 (PAGE_STUDY)
                  G=0.389756/1952 (1000Genomes)
                  HGVS:

                  9.

                  rs3775586 has merged into rs1049216 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    4:184628935 (GRCh38)
                    4:185550089 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:184628934:A:G
                    Gene:
                    CASP3 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Clinical significance:
                    benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.253457/5755 (ALFA)
                    A=0.142857/30 (Vietnamese)
                    A=0.181769/333 (Korea1K)
                    A=0.187372/549 (KOREAN)
                    G=0.189139/101 (MGP)
                    G=0.189815/41 (Qatari)
                    A=0.190601/146 (PRJEB37584)
                    G=0.2/8 (GENOME_DK)
                    A=0.201111/3371 (TOMMO)
                    G=0.236667/142 (NorthernSweden)
                    G=0.247495/247 (GoNL)
                    A=0.25/10 (Siberian)
                    G=0.262675/974 (TWINSUK)
                    G=0.263896/36976 (GnomAD)
                    G=0.266071/1192 (Estonian)
                    G=0.276855/1067 (ALSPAC)
                    A=0.281081/104 (SGDP_PRJ)
                    G=0.291035/77034 (TOPMED)
                    G=0.354173/27872 (PAGE_STUDY)
                    G=0.389756/1952 (1000Genomes)
                    HGVS:

                    10.

                    rs3189316 has merged into rs1049216 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      4:184628935 (GRCh38)
                      4:185550089 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:184628934:A:G
                      Gene:
                      CASP3 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Clinical significance:
                      benign
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.253457/5755 (ALFA)
                      A=0.142857/30 (Vietnamese)
                      A=0.181769/333 (Korea1K)
                      A=0.187372/549 (KOREAN)
                      G=0.189139/101 (MGP)
                      G=0.189815/41 (Qatari)
                      A=0.190601/146 (PRJEB37584)
                      G=0.2/8 (GENOME_DK)
                      A=0.201111/3371 (TOMMO)
                      G=0.236667/142 (NorthernSweden)
                      G=0.247495/247 (GoNL)
                      A=0.25/10 (Siberian)
                      G=0.262675/974 (TWINSUK)
                      G=0.263896/36976 (GnomAD)
                      G=0.266071/1192 (Estonian)
                      G=0.276855/1067 (ALSPAC)
                      A=0.281081/104 (SGDP_PRJ)
                      G=0.291035/77034 (TOPMED)
                      G=0.354173/27872 (PAGE_STUDY)
                      G=0.389756/1952 (1000Genomes)
                      HGVS:

                      11.

                      rs6948 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C,T [Show Flanks]
                        Chromosome:
                        4:184627976 (GRCh38)
                        4:185549130 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:184627975:G:A,NC_000004.12:184627975:G:C,NC_000004.12:184627975:G:T
                        Gene:
                        CASP3 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.46766/25350 (ALFA)
                        C=0./0 (KOREAN)
                        T=0.076779/41 (MGP)
                        G=0.149533/32 (Vietnamese)
                        G=0.174127/319 (Korea1K)
                        G=0.179045/135 (PRJEB37584)
                        G=0.196688/3296 (TOMMO)
                        G=0.217391/10 (Siberian)
                        G=0.226891/108 (SGDP_PRJ)
                        G=0.289141/229 (HapMap)
                        T=0.37963/82 (Qatari)
                        T=0.41/246 (NorthernSweden)
                        T=0.416295/1865 (Estonian)
                        T=0.418838/418 (GoNL)
                        T=0.425/17 (GENOME_DK)
                        G=0.433323/2170 (1000Genomes)
                        T=0.450647/1671 (TWINSUK)
                        T=0.462377/1782 (ALSPAC)
                        T=0.482388/67570 (GnomAD)
                        G=0.493162/130535 (TOPMED)
                        HGVS:
                        NC_000004.12:g.184627976G>A, NC_000004.12:g.184627976G>C, NC_000004.12:g.184627976G>T, NC_000004.11:g.185549130G>A, NC_000004.11:g.185549130G>C, NC_000004.11:g.185549130G>T, NM_004346.4:c.*1296C>T, NM_004346.4:c.*1296C>G, NM_004346.4:c.*1296C>A, NM_004346.3:c.*1296C>T, NM_004346.3:c.*1296C>G, NM_004346.3:c.*1296C>A, NM_032991.3:c.*1296C>T, NM_032991.3:c.*1296C>G, NM_032991.3:c.*1296C>A, NM_032991.2:c.*1296C>T, NM_032991.2:c.*1296C>G, NM_032991.2:c.*1296C>A, NM_001354783.2:c.*1460C>T, NM_001354783.2:c.*1460C>G, NM_001354783.2:c.*1460C>A, NM_001354783.1:c.*1460C>T, NM_001354783.1:c.*1460C>G, NM_001354783.1:c.*1460C>A, NM_001354780.2:c.*1296C>T, NM_001354780.2:c.*1296C>G, NM_001354780.2:c.*1296C>A, NM_001354780.1:c.*1296C>T, NM_001354780.1:c.*1296C>G, NM_001354780.1:c.*1296C>A, NM_001354777.2:c.*1296C>T, NM_001354777.2:c.*1296C>G, NM_001354777.2:c.*1296C>A, NM_001354777.1:c.*1296C>T, NM_001354777.1:c.*1296C>G, NM_001354777.1:c.*1296C>A, NM_001354782.2:c.*1460C>T, NM_001354782.2:c.*1460C>G, NM_001354782.2:c.*1460C>A, NM_001354782.1:c.*1460C>T, NM_001354782.1:c.*1460C>G, NM_001354782.1:c.*1460C>A, NM_001354779.2:c.*1296C>T, NM_001354779.2:c.*1296C>G, NM_001354779.2:c.*1296C>A, NM_001354779.1:c.*1296C>T, NM_001354779.1:c.*1296C>G, NM_001354779.1:c.*1296C>A, NM_001354781.2:c.*1460C>T, NM_001354781.2:c.*1460C>G, NM_001354781.2:c.*1460C>A, NM_001354781.1:c.*1460C>T, NM_001354781.1:c.*1460C>G, NM_001354781.1:c.*1460C>A, NM_001354784.2:c.*1460C>T, NM_001354784.2:c.*1460C>G, NM_001354784.2:c.*1460C>A, NM_001354784.1:c.*1460C>T, NM_001354784.1:c.*1460C>G, NM_001354784.1:c.*1460C>A, XM_047416236.1:c.*1296C>T, XM_047416236.1:c.*1296C>G, XM_047416236.1:c.*1296C>A, XM_047416238.1:c.*1296C>T, XM_047416238.1:c.*1296C>G, XM_047416238.1:c.*1296C>A, XM_047416237.1:c.*1296C>T, XM_047416237.1:c.*1296C>G, XM_047416237.1:c.*1296C>A, XM_047416239.1:c.*1296C>T, XM_047416239.1:c.*1296C>G, XM_047416239.1:c.*1296C>A, NM_001354778.1:c.*1296C>T, NM_001354778.1:c.*1296C>G, NM_001354778.1:c.*1296C>A

                        PubMedLitVar

                        12.

                        rs8549 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          4:184627854 (GRCh38)
                          4:185549008 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:184627853:T:C
                          Gene:
                          CASP3 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.003793/446 (ALFA)
                          C=0.009259/2 (Qatari)
                          C=0.017757/2490 (GnomAD)
                          C=0.017987/4761 (TOPMED)
                          C=0.020612/103 (1000Genomes)
                          C=0.07191/64 (HapMap)
                          T=0.5/2 (SGDP_PRJ)
                          HGVS:

                          PubMed

                          13.

                          rs1049210 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G [Show Flanks]
                            Chromosome:
                            4:184631071 (GRCh38)
                            4:185552225 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:184631070:C:A,NC_000004.12:184631070:C:G
                            Gene:
                            CASP3 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            A=0.011429/12 (HapMap)
                            HGVS:
                            NC_000004.12:g.184631071C>A, NC_000004.12:g.184631071C>G, NC_000004.11:g.185552225C>A, NC_000004.11:g.185552225C>G, NM_004346.4:c.570G>T, NM_004346.4:c.570G>C, NM_004346.3:c.570G>T, NM_004346.3:c.570G>C, NM_032991.3:c.570G>T, NM_032991.3:c.570G>C, NM_032991.2:c.570G>T, NM_032991.2:c.570G>C, NM_001354780.2:c.492G>T, NM_001354780.2:c.492G>C, NM_001354780.1:c.492G>T, NM_001354780.1:c.492G>C, NM_001354777.2:c.570G>T, NM_001354777.2:c.570G>C, NM_001354777.1:c.570G>T, NM_001354777.1:c.570G>C, NM_001354779.2:c.492G>T, NM_001354779.2:c.492G>C, NM_001354779.1:c.492G>T, NM_001354779.1:c.492G>C, XM_047416236.1:c.570G>T, XM_047416236.1:c.570G>C, XM_047416238.1:c.570G>T, XM_047416238.1:c.570G>C, XM_047416237.1:c.570G>T, XM_047416237.1:c.570G>C, XM_047416239.1:c.570G>T, XM_047416239.1:c.570G>C, NM_001354778.1:c.570G>T, NM_001354778.1:c.570G>C, NP_004337.2:p.Glu190Asp, NP_004337.2:p.Glu190Asp, NP_116786.1:p.Glu190Asp, NP_116786.1:p.Glu190Asp, NP_001341709.1:p.Glu164Asp, NP_001341709.1:p.Glu164Asp, NP_001341706.1:p.Glu190Asp, NP_001341706.1:p.Glu190Asp, NP_001341708.1:p.Glu164Asp, NP_001341708.1:p.Glu164Asp, XP_047272192.1:p.Glu190Asp, XP_047272192.1:p.Glu190Asp, XP_047272194.1:p.Glu190Asp, XP_047272194.1:p.Glu190Asp, XP_047272193.1:p.Glu190Asp, XP_047272193.1:p.Glu190Asp, XP_047272195.1:p.Glu190Asp, XP_047272195.1:p.Glu190Asp

                            PubMedLitVar

                            14.

                            rs1049253 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              4:184627797 (GRCh38)
                              4:185548951 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:184627796:A:G
                              Gene:
                              CASP3 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.190227/28404 (ALFA)
                              G=0.002525/2 (PRJEB37584)
                              G=0.080262/402 (1000Genomes)
                              G=0.087402/111 (HapMap)
                              G=0.128588/34036 (TOPMED)
                              G=0.134259/29 (Qatari)
                              G=0.134316/18834 (GnomAD)
                              G=0.149554/670 (Estonian)
                              G=0.171343/171 (GoNL)
                              G=0.173333/104 (NorthernSweden)
                              G=0.185003/713 (ALSPAC)
                              G=0.186893/693 (TWINSUK)
                              G=0.225/9 (GENOME_DK)
                              A=0.375/3 (Siberian)
                              A=0.423913/39 (SGDP_PRJ)
                              HGVS:

                              PubMedLitVar

                              15.

                              rs1405937 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                4:184650784 (GRCh38)
                                4:185571938 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:184650783:G:C
                                Gene:
                                CASP3 (Varview), PRIMPOL (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.224987/4250 (ALFA)
                                C=0.1/4 (GENOME_DK)
                                C=0.136667/82 (NorthernSweden)
                                C=0.142857/640 (Estonian)
                                C=0.149946/556 (TWINSUK)
                                C=0.150234/579 (ALSPAC)
                                C=0.157315/157 (GoNL)
                                G=0.200935/43 (Vietnamese)
                                G=0.25/7 (Siberian)
                                C=0.259259/56 (Qatari)
                                C=0.284771/39877 (GnomAD)
                                C=0.313805/83061 (TOPMED)
                                G=0.314516/117 (SGDP_PRJ)
                                G=0.33413/979 (KOREAN)
                                G=0.356987/654 (Korea1K)
                                G=0.365454/6125 (TOMMO)
                                C=0.428638/2147 (1000Genomes)
                                HGVS:

                                PubMedLitVar

                                16.

                                rs1405938 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  4:184635464 (GRCh38)
                                  4:185556618 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:184635463:C:T
                                  Gene:
                                  CASP3 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.169046/7293 (ALFA)
                                  T=0.08/124 (HapMap)
                                  T=0.089007/446 (1000Genomes)
                                  T=0.134259/29 (Qatari)
                                  T=0.137319/36347 (TOPMED)
                                  T=0.142427/19958 (GnomAD)
                                  T=0.15/672 (Estonian)
                                  T=0.151978/18338 (ExAC)
                                  T=0.153564/36645 (GnomAD_exomes)
                                  T=0.153846/2000 (GoESP)
                                  T=0.154605/47 (FINRISK)
                                  T=0.171343/171 (GoNL)
                                  T=0.173333/104 (NorthernSweden)
                                  T=0.184743/712 (ALSPAC)
                                  T=0.186624/692 (TWINSUK)
                                  T=0.215356/115 (MGP)
                                  T=0.225/9 (GENOME_DK)
                                  T=0.285714/4 (PRJEB36033)
                                  C=0.375/3 (Siberian)
                                  C=0.431373/44 (SGDP_PRJ)
                                  HGVS:

                                  17.

                                  rs1405942 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    4:184635125 (GRCh38)
                                    4:185556279 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:184635124:G:A,NC_000004.12:184635124:G:C
                                    Gene:
                                    CASP3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.076489/1194 (ALFA)
                                    A=0.00006/1 (TOMMO)
                                    A=0.080262/402 (1000Genomes)
                                    A=0.123596/66 (MGP)
                                    A=0.126374/23 (HapMap)
                                    A=0.128463/34003 (TOPMED)
                                    A=0.134259/29 (Qatari)
                                    A=0.15/672 (Estonian)
                                    A=0.171343/171 (GoNL)
                                    A=0.173333/104 (NorthernSweden)
                                    A=0.184224/710 (ALSPAC)
                                    A=0.186624/692 (TWINSUK)
                                    A=0.225/9 (GENOME_DK)
                                    G=0.375/3 (Siberian)
                                    G=0.423913/39 (SGDP_PRJ)
                                    HGVS:

                                    18.

                                    rs1405944 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      4:184632199 (GRCh38)
                                      4:185553353 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:184632198:A:T
                                      Gene:
                                      CASP3 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.462573/8738 (ALFA)
                                      T=0.086142/46 (MGP)
                                      T=0.135514/29 (Vietnamese)
                                      T=0.174672/320 (Korea1K)
                                      T=0.183959/539 (KOREAN)
                                      T=0.202951/3401 (TOMMO)
                                      A=0.333333/10 (Siberian)
                                      A=0.362416/108 (SGDP_PRJ)
                                      A=0.375/81 (Qatari)
                                      A=0.41/246 (NorthernSweden)
                                      A=0.416518/1866 (Estonian)
                                      A=0.418838/418 (GoNL)
                                      A=0.425/17 (GENOME_DK)
                                      T=0.435821/2183 (1000Genomes)
                                      A=0.450108/1669 (TWINSUK)
                                      A=0.462636/1783 (ALSPAC)
                                      A=0.478509/66974 (GnomAD)
                                      T=0.497337/131640 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1802667 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C,T [Show Flanks]
                                        Chromosome:
                                        4:184627819 (GRCh38)
                                        4:185548973 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:184627818:G:C,NC_000004.12:184627818:G:T
                                        Gene:
                                        CASP3 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        NC_000004.12:g.184627819G>C, NC_000004.12:g.184627819G>T, NC_000004.11:g.185548973G>C, NC_000004.11:g.185548973G>T, NM_004346.4:c.*1453C>G, NM_004346.4:c.*1453C>A, NM_004346.3:c.*1453C>G, NM_004346.3:c.*1453C>A, NM_032991.3:c.*1453C>G, NM_032991.3:c.*1453C>A, NM_032991.2:c.*1453C>G, NM_032991.2:c.*1453C>A, NM_001354783.2:c.*1617C>G, NM_001354783.2:c.*1617C>A, NM_001354783.1:c.*1617C>G, NM_001354783.1:c.*1617C>A, NM_001354780.2:c.*1453C>G, NM_001354780.2:c.*1453C>A, NM_001354780.1:c.*1453C>G, NM_001354780.1:c.*1453C>A, NM_001354777.2:c.*1453C>G, NM_001354777.2:c.*1453C>A, NM_001354777.1:c.*1453C>G, NM_001354777.1:c.*1453C>A, NM_001354782.2:c.*1617C>G, NM_001354782.2:c.*1617C>A, NM_001354782.1:c.*1617C>G, NM_001354782.1:c.*1617C>A, NM_001354779.2:c.*1453C>G, NM_001354779.2:c.*1453C>A, NM_001354779.1:c.*1453C>G, NM_001354779.1:c.*1453C>A, NM_001354781.2:c.*1617C>G, NM_001354781.2:c.*1617C>A, NM_001354781.1:c.*1617C>G, NM_001354781.1:c.*1617C>A, NM_001354784.2:c.*1617C>G, NM_001354784.2:c.*1617C>A, NM_001354784.1:c.*1617C>G, NM_001354784.1:c.*1617C>A, XM_047416236.1:c.*1453C>G, XM_047416236.1:c.*1453C>A, XM_047416238.1:c.*1453C>G, XM_047416238.1:c.*1453C>A, XM_047416237.1:c.*1453C>G, XM_047416237.1:c.*1453C>A, XM_047416239.1:c.*1453C>G, XM_047416239.1:c.*1453C>A, NM_001354778.1:c.*1453C>G, NM_001354778.1:c.*1453C>A

                                        20.

                                        rs1830254 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          4:184633913 (GRCh38)
                                          4:185555067 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:184633912:G:A
                                          Gene:
                                          CASP3 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.158338/2991 (ALFA)
                                          A=0./0 (HapMap)
                                          A=0.080106/401 (1000Genomes)
                                          A=0.128426/33993 (TOPMED)
                                          A=0.134206/18803 (GnomAD)
                                          A=0.134259/29 (Qatari)
                                          A=0.149777/671 (Estonian)
                                          A=0.171343/171 (GoNL)
                                          A=0.173333/104 (NorthernSweden)
                                          A=0.184743/712 (ALSPAC)
                                          A=0.186893/693 (TWINSUK)
                                          A=0.225/9 (GENOME_DK)
                                          G=0.375/3 (Siberian)
                                          G=0.423913/39 (SGDP_PRJ)
                                          HGVS:

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