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Items: 1 to 20 of 4363

1.

rs3048 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C,T [Show Flanks]
    Chromosome:
    X:48523786 (GRCh38)
    X:48382174 (GRCh37)
    Canonical SPDI:
    NC_000023.11:48523785:G:A,NC_000023.11:48523785:G:C,NC_000023.11:48523785:G:T
    Gene:
    EBP (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.303199/28619 (ALFA)
    C=0./0 (KOREAN)
    G=0.1875/39 (SGDP_PRJ)
    T=0.222222/24 (Qatari)
    G=0.230769/6 (Siberian)
    T=0.288031/27458 (GnomAD)
    T=0.289879/76728 (TOPMED)
    T=0.29272/3092 (GoESP)
    T=0.315232/1190 (1000Genomes)
    T=0.321845/607 (HapMap)
    T=0.345794/999 (ALSPAC)
    T=0.346442/185 (MGP)
    T=0.35/14 (GENOME_DK)
    T=0.36165/1341 (TWINSUK)
    T=0.448632/5738 (TOMMO)
    G=0.458333/22 (Vietnamese)
    HGVS:
    2.

    rs4641 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:156137743 (GRCh38)
      1:156107534 (GRCh37)
      Canonical SPDI:
      NC_000001.11:156137742:C:T
      Gene:
      LMNA (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
      Clinical significance:
      benign,not-provided
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.25735/68172 (ALFA)
      T=0.184127/348 (HapMap)
      T=0.190402/853 (Estonian)
      T=0.195065/15352 (PAGE_STUDY)
      T=0.197012/2413 (GoESP)
      T=0.2/8 (GENOME_DK)
      T=0.204464/3426 (TOMMO)
      T=0.207154/29031 (GnomAD)
      T=0.211667/127 (NorthernSweden)
      T=0.212468/167 (PRJEB37584)
      T=0.215539/57051 (TOPMED)
      T=0.220248/1103 (1000Genomes)
      T=0.226592/121 (MGP)
      T=0.240395/438 (Korea1K)
      T=0.250853/735 (KOREAN)
      T=0.254315/943 (TWINSUK)
      T=0.25463/55 (Qatari)
      T=0.262741/40459 (GnomAD_exomes)
      T=0.265505/5377 (ExAC)
      T=0.26959/1039 (ALSPAC)
      C=0.357143/5 (Siberian)
      C=0.397436/93 (SGDP_PRJ)
      HGVS:
      3.

      rs5219 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A,C,G [Show Flanks]
        Chromosome:
        11:17388025 (GRCh38)
        11:17409572 (GRCh37)
        Canonical SPDI:
        NC_000011.10:17388024:T:A,NC_000011.10:17388024:T:C,NC_000011.10:17388024:T:G
        Gene:
        KCNJ11 (Varview)
        Functional Consequence:
        5_prime_UTR_variant,coding_sequence_variant,intron_variant,missense_variant,stop_gained
        Clinical significance:
        likely-benign,drug-response,benign-likely-benign,risk-factor,benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.354897/123571 (ALFA)
        G=0./0 (KOREAN)
        T=0.199074/43 (Qatari)
        T=0.212302/107 (SGDP_PRJ)
        T=0.224503/17654 (PAGE_STUDY)
        T=0.262979/1317 (1000Genomes)
        T=0.270324/71552 (TOPMED)
        C=0.277154/148 (MGP)
        T=0.279516/39187 (GnomAD)
        T=0.314815/17 (Siberian)
        T=0.333333/8 (PRJEB36033)
        T=0.350324/1299 (TWINSUK)
        T=0.351792/216 (Vietnamese)
        T=0.352905/42741 (ExAC)
        T=0.357715/357 (GoNL)
        T=0.359802/90157 (GnomAD_exomes)
        T=0.362394/6073 (TOMMO)
        T=0.362481/1397 (ALSPAC)
        T=0.379464/1700 (Estonian)
        T=0.389594/307 (PRJEB37584)
        T=0.402838/738 (Korea1K)
        T=0.405/243 (NorthernSweden)
        T=0.467105/142 (FINRISK)
        HGVS:
        4.

        rs6336 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:156879126 (GRCh38)
          1:156848918 (GRCh37)
          Canonical SPDI:
          NC_000001.11:156879125:C:T
          Gene:
          NTRK1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Clinical significance:
          benign-likely-benign,pathogenic,benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.054655/6004 (ALFA)
          T=0.000684/2 (KOREAN)
          T=0.001263/1 (PRJEB37584)
          T=0.015244/5 (HapMap)
          T=0.019392/1526 (PAGE_STUDY)
          T=0.023179/7 (FINRISK)
          T=0.024361/122 (1000Genomes)
          T=0.036552/9675 (TOPMED)
          T=0.036964/5180 (GnomAD)
          T=0.037037/8 (Qatari)
          T=0.041647/10359 (GnomAD_exomes)
          T=0.042526/5104 (ExAC)
          T=0.04509/45 (GoNL)
          T=0.05/2 (GENOME_DK)
          T=0.050562/27 (MGP)
          T=0.051667/31 (NorthernSweden)
          T=0.055556/206 (TWINSUK)
          T=0.058381/225 (ALSPAC)
          T=0.058955/264 (Estonian)
          C=0.5/2 (Siberian)
          C=0.5/20 (SGDP_PRJ)
          HGVS:
          5.

          rs6339 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            1:156879154 (GRCh38)
            1:156848946 (GRCh37)
            Canonical SPDI:
            NC_000001.11:156879153:G:T
            Gene:
            NTRK1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Clinical significance:
            benign-likely-benign,pathogenic,benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.052982/12245 (ALFA)
            T=0.000685/2 (KOREAN)
            T=0.001263/1 (PRJEB37584)
            T=0.019428/1529 (PAGE_STUDY)
            T=0.022963/115 (1000Genomes)
            T=0.023179/7 (FINRISK)
            T=0.031397/40 (HapMap)
            T=0.036575/9681 (TOPMED)
            T=0.036982/5183 (GnomAD)
            T=0.037037/8 (Qatari)
            T=0.041676/10381 (GnomAD_exomes)
            T=0.042404/5101 (ExAC)
            T=0.04509/45 (GoNL)
            T=0.051667/31 (NorthernSweden)
            T=0.052434/28 (MGP)
            T=0.055556/206 (TWINSUK)
            T=0.058482/262 (Estonian)
            T=0.05864/226 (ALSPAC)
            G=0.5/2 (Siberian)
            G=0.5/20 (SGDP_PRJ)
            HGVS:
            6.

            rs6356 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              11:2169721 (GRCh38)
              11:2190951 (GRCh37)
              Canonical SPDI:
              NC_000011.10:2169720:C:A,NC_000011.10:2169720:C:T
              Gene:
              TH (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Clinical significance:
              benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.366614/59860 (ALFA)
              T=0.02809/15 (MGP)
              C=0.242904/445 (Korea1K)
              C=0.248804/728 (KOREAN)
              C=0.259197/155 (Vietnamese)
              C=0.275/11 (Siberian)
              T=0.288/3744 (GoESP)
              C=0.28934/114 (SGDP_PRJ)
              T=0.315547/44193 (GnomAD)
              T=0.320775/84906 (TOPMED)
              T=0.324074/70 (Qatari)
              C=0.324537/5436 (TOMMO)
              T=0.327421/25567 (PAGE_STUDY)
              T=0.346912/1337 (ALSPAC)
              T=0.363636/16 (PRJEB36033)
              T=0.36808/1649 (Estonian)
              T=0.372168/1380 (TWINSUK)
              T=0.374749/374 (GoNL)
              T=0.375/15 (GENOME_DK)
              T=0.396825/750 (HapMap)
              T=0.424903/50951 (ExAC)
              T=0.42865/106793 (GnomAD_exomes)
              T=0.430511/2156 (1000Genomes)
              T=0.436667/262 (NorthernSweden)
              C=0.490066/148 (FINRISK)
              T=0.490394/1021 (HGDP_Stanford)
              HGVS:
              7.

              rs6628 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:2681819 (GRCh38)
                17:2585113 (GRCh37)
                Canonical SPDI:
                NC_000017.11:2681818:C:T
                Gene:
                PAFAH1B1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,3_prime_UTR_variant
                Clinical significance:
                benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.2262/6306 (ALFA)
                T=0.024821/416 (TOMMO)
                T=0.045752/28 (Vietnamese)
                T=0.04757/139 (KOREAN)
                T=0.050891/40 (PRJEB37584)
                T=0.138578/694 (1000Genomes)
                T=0.193744/51282 (TOPMED)
                T=0.198502/106 (MGP)
                T=0.199542/49213 (GnomAD_exomes)
                T=0.2/60 (FINRISK)
                T=0.200943/28118 (GnomAD)
                T=0.207289/2696 (GoESP)
                T=0.212042/23406 (ExAC)
                T=0.240625/1078 (Estonian)
                T=0.256357/988 (ALSPAC)
                T=0.257821/956 (TWINSUK)
                T=0.275/11 (GENOME_DK)
                T=0.275/165 (NorthernSweden)
                T=0.287037/62 (Qatari)
                T=0.295591/295 (GoNL)
                C=0.333333/4 (Siberian)
                C=0.431818/57 (SGDP_PRJ)
                HGVS:
                8.

                rs7339 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  1:156139185 (GRCh38)
                  1:156108976 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:156139184:G:A,NC_000001.11:156139184:G:C
                  Gene:
                  LMNA (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
                  Clinical significance:
                  not-provided
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.033482/527 (ALFA)
                  C=0.011038/185 (TOMMO)
                  C=0.017467/32 (Korea1K)
                  C=0.019165/56 (KOREAN)
                  C=0.020833/16 (PRJEB37584)
                  C=0.046667/28 (NorthernSweden)
                  C=0.059118/59 (GoNL)
                  C=0.059871/222 (TWINSUK)
                  C=0.062556/280 (Estonian)
                  C=0.06357/245 (ALSPAC)
                  C=0.073034/39 (MGP)
                  C=0.162037/35 (Qatari)
                  C=0.176741/807 (GoESP)
                  C=0.181854/48135 (TOPMED)
                  C=0.185304/928 (1000Genomes)
                  G=0.419643/47 (SGDP_PRJ)
                  G=0.5/3 (Siberian)
                  HGVS:
                  9.

                  rs9674 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:7225094 (GRCh38)
                    17:7128413 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:7225093:C:T
                    Gene:
                    ACADVL (Varview), DVL2 (Varview), MIR324 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
                    Clinical significance:
                    benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs10882 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G,T [Show Flanks]
                      Chromosome:
                      3:8746678 (GRCh38)
                      3:8788364 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:8746677:C:A,NC_000003.12:8746677:C:G,NC_000003.12:8746677:C:T
                      Gene:
                      CAV3 (Varview), SSUH2 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
                      Clinical significance:
                      not-provided,benign,likely-benign
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.329681/4754 (ALFA)
                      T=0./0 (KOREAN)
                      G=0.219749/3683 (TOMMO)
                      G=0.274563/503 (Korea1K)
                      G=0.322684/1616 (1000Genomes)
                      C=0.333333/8 (Siberian)
                      C=0.334395/105 (SGDP_PRJ)
                      G=0.345/91318 (TOPMED)
                      G=0.357143/5 (PharmGKB)
                      G=0.366667/220 (NorthernSweden)
                      G=0.393334/48742 (GnomAD)
                      G=0.404762/85 (Vietnamese)
                      G=0.415616/32709 (PAGE_STUDY)
                      G=0.45/18 (GENOME_DK)
                      HGVS:
                      11.

                      rs11476 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        3:8746512 (GRCh38)
                        3:8788198 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:8746511:A:T
                        Gene:
                        CAV3 (Varview), SSUH2 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
                        Clinical significance:
                        not-provided,benign,likely-benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.435313/8735 (ALFA)
                        T=0.217005/3637 (TOMMO)
                        T=0.265188/777 (KOREAN)
                        T=0.267467/490 (Korea1K)
                        A=0.333333/10 (Siberian)
                        T=0.348243/1744 (1000Genomes)
                        T=0.359375/115 (HapMap)
                        A=0.366883/113 (SGDP_PRJ)
                        T=0.37963/82 (Vietnamese)
                        T=0.388107/30544 (PAGE_STUDY)
                        T=0.407143/57 (PharmGKB)
                        T=0.412037/89 (Qatari)
                        T=0.412214/109109 (TOPMED)
                        T=0.424154/59273 (GnomAD)
                        T=0.425566/1578 (TWINSUK)
                        T=0.426854/426 (GoNL)
                        T=0.437208/1685 (ALSPAC)
                        T=0.478795/2145 (Estonian)
                        T=0.485/291 (NorthernSweden)
                        A=0.5/20 (GENOME_DK)
                        HGVS:
                        12.

                        rs11694 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          14:74484579 (GRCh38)
                          14:74951282 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:74484578:A:G
                          Gene:
                          NPC2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Clinical significance:
                          pathogenic
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          13.
                          14.

                          rs14635 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            19:39507492 (GRCh38)
                            19:39998132 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:39507491:G:T
                            Gene:
                            DLL3 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Clinical significance:
                            benign
                            Validated:
                            by cluster
                            HGVS:
                            15.

                            rs237883 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              3:8746799 (GRCh38)
                              3:8788485 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:8746798:T:A,NC_000003.12:8746798:T:C
                              Gene:
                              CAV3 (Varview), SSUH2 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
                              Clinical significance:
                              not-provided
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.166021/2142 (ALFA)
                              T=0.041667/2 (Siberian)
                              T=0.074074/16 (Qatari)
                              T=0.083333/1 (PharmGKB)
                              T=0.107955/57 (SGDP_PRJ)
                              T=0.146293/146 (GoNL)
                              T=0.148829/89 (NorthernSweden)
                              T=0.15/6 (GENOME_DK)
                              T=0.163339/818 (1000Genomes)
                              T=0.164316/22229 (GnomAD)
                              T=0.169134/44768 (TOPMED)
                              T=0.213962/3586 (TOMMO)
                              T=0.229693/673 (KOREAN)
                              HGVS:
                              16.

                              rs309458 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,G,T [Show Flanks]
                                Chromosome:
                                9:37429817 (GRCh38)
                                9:37429814 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:37429816:A:C,NC_000009.12:37429816:A:G,NC_000009.12:37429816:A:T
                                Gene:
                                GRHPR (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                Clinical significance:
                                benign,uncertain-significance
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.093627/19847 (ALFA)
                                T=0./0 (KOREAN)
                                A=0.067416/36 (MGP)
                                A=0.074919/46 (Vietnamese)
                                A=0.081667/49 (NorthernSweden)
                                A=0.082794/307 (TWINSUK)
                                A=0.086663/334 (ALSPAC)
                                A=0.092593/5 (Siberian)
                                A=0.1/1676 (TOMMO)
                                A=0.102532/81 (PRJEB37584)
                                A=0.105979/26625 (GnomAD_exomes)
                                A=0.107544/13041 (ExAC)
                                A=0.108259/485 (Estonian)
                                A=0.112727/62 (SGDP_PRJ)
                                A=0.114228/114 (GoNL)
                                A=0.115741/25 (Qatari)
                                A=0.125546/230 (Korea1K)
                                A=0.141926/19898 (GnomAD)
                                A=0.142816/37802 (TOPMED)
                                A=0.143011/1860 (GoESP)
                                A=0.15/6 (GENOME_DK)
                                A=0.150759/755 (1000Genomes)
                                A=0.154605/47 (FINRISK)
                                A=0.166489/313 (HapMap)
                                A=0.174313/13481 (PAGE_STUDY)
                                HGVS:
                                NC_000009.12:g.37429817A>C, NC_000009.12:g.37429817A>G, NC_000009.12:g.37429817A>T, NC_000009.11:g.37429814A>C, NC_000009.11:g.37429814A>G, NC_000009.11:g.37429814A>T, NG_008135.1:g.12108A>C, NG_008135.1:g.12108A>G, NG_008135.1:g.12108A>T, NM_012203.2:c.579A>C, NM_012203.2:c.579A>G, NM_012203.2:c.579A>T, NM_012203.1:c.579A>C, NM_012203.1:c.579A>G, NM_012203.1:c.579A>T, XM_017015323.2:c.177A>C, XM_017015323.2:c.177A>G, XM_017015323.2:c.177A>T, XM_017015320.2:c.579A>C, XM_017015320.2:c.579A>G, XM_017015320.2:c.579A>T, XM_017015321.2:c.579A>C, XM_017015321.2:c.579A>G, XM_017015321.2:c.579A>T, XM_024447716.1:c.852A>C, XM_024447716.1:c.852A>G, XM_024447716.1:c.852A>T, XM_024447717.1:c.852A>C, XM_024447717.1:c.852A>G, XM_024447717.1:c.852A>T, XR_002956830.1:n.638A>C, XR_002956830.1:n.638A>G, XR_002956830.1:n.638A>T, XR_002956828.1:n.867A>C, XR_002956828.1:n.867A>G, XR_002956828.1:n.867A>T, XR_002956829.1:n.867A>C, XR_002956829.1:n.867A>G, XR_002956829.1:n.867A>T, XR_002956831.1:n.313A>C, XR_002956831.1:n.313A>G, XR_002956831.1:n.313A>T, XR_002956832.1:n.998A>C, XR_002956832.1:n.998A>G, XR_002956832.1:n.998A>T, XM_005251631.1:c.258A>C, XM_005251631.1:c.258A>G, XM_005251631.1:c.258A>T
                                17.

                                rs364897 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:155238215 (GRCh38)
                                  1:155208006 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:155238214:T:C
                                  Gene:
                                  GBA (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Clinical significance:
                                  pathogenic,likely-pathogenic
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000055/3 (ALFA)
                                  C=0.000068/8 (ExAC)
                                  C=0.000072/18 (GnomAD_exomes)
                                  C=0.000107/15 (GnomAD)
                                  C=0.000119/2 (TOMMO)
                                  C=0.000125/33 (TOPMED)
                                  C=0.0002/1 (1000Genomes)
                                  C=0.000342/1 (KOREAN)
                                  T=0.359589/105 (HapMap)
                                  HGVS:
                                  18.

                                  rs381737 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,T [Show Flanks]
                                    Chromosome:
                                    1:155238141 (GRCh38)
                                    1:155207932 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:155238140:A:C,NC_000001.11:155238140:A:T
                                    Gene:
                                    GBA (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Clinical significance:
                                    pathogenic
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000055/2 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000016/2 (ExAC)
                                    T=0.000358/6 (TOMMO)
                                    HGVS:
                                    NC_000001.11:g.155238141A>C, NC_000001.11:g.155238141A>T, NC_000001.10:g.155207932A>C, NC_000001.10:g.155207932A>T, NG_009783.1:g.11557T>G, NG_009783.1:g.11557T>A, NM_000157.4:c.754T>G, NM_000157.4:c.754T>A, NM_000157.3:c.754T>G, NM_000157.3:c.754T>A, NM_001005741.3:c.754T>G, NM_001005741.3:c.754T>A, NM_001005741.2:c.754T>G, NM_001005741.2:c.754T>A, NM_001005742.3:c.754T>G, NM_001005742.3:c.754T>A, NM_001005742.2:c.754T>G, NM_001005742.2:c.754T>A, NM_001171811.2:c.493T>G, NM_001171811.2:c.493T>A, NM_001171811.1:c.493T>G, NM_001171811.1:c.493T>A, NM_001171812.2:c.607T>G, NM_001171812.2:c.607T>A, NM_001171812.1:c.607T>G, NM_001171812.1:c.607T>A, NG_042867.1:g.4603A>C, NG_042867.1:g.4603A>T, NW_003315906.1:g.43164A>C, NW_003315906.1:g.43164A>T, NM_001005749.1:c.754T>G, NM_001005749.1:c.754T>A, NM_001005750.1:c.754T>G, NM_001005750.1:c.754T>A, NP_000148.2:p.Phe252Val, NP_000148.2:p.Phe252Ile, NP_001005741.1:p.Phe252Val, NP_001005741.1:p.Phe252Ile, NP_001005742.1:p.Phe252Val, NP_001005742.1:p.Phe252Ile, NP_001165282.1:p.Phe165Val, NP_001165282.1:p.Phe165Ile, NP_001165283.1:p.Phe203Val, NP_001165283.1:p.Phe203Ile
                                    19.

                                    rs421016 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,G [Show Flanks]
                                      Chromosome:
                                      1:155235252 (GRCh38)
                                      1:155205043 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:155235251:A:C,NC_000001.11:155235251:A:G
                                      Gene:
                                      GBA (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Clinical significance:
                                      risk-factor,pathogenic,pathogenic-likely-pathogenic,likely-pathogenic
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.002528/64 (ALFA)
                                      G=0.000342/1 (KOREAN)
                                      G=0.003099/375 (ExAC)
                                      G=0.003395/17 (1000Genomes)
                                      G=0.004008/4 (GoNL)
                                      HGVS:
                                      NC_000001.11:g.155235252A>C, NC_000001.11:g.155235252A>G, NC_000001.10:g.155205043A>C, NC_000001.10:g.155205043A>G, NG_009783.1:g.14446T>G, NG_009783.1:g.14446T>C, NM_000157.4:c.1448T>G, NM_000157.4:c.1448T>C, NM_000157.3:c.1448T>G, NM_000157.3:c.1448T>C, NM_001005741.3:c.1448T>G, NM_001005741.3:c.1448T>C, NM_001005741.2:c.1448T>G, NM_001005741.2:c.1448T>C, NM_001005742.3:c.1448T>G, NM_001005742.3:c.1448T>C, NM_001005742.2:c.1448T>G, NM_001005742.2:c.1448T>C, NM_001171811.2:c.1187T>G, NM_001171811.2:c.1187T>C, NM_001171811.1:c.1187T>G, NM_001171811.1:c.1187T>C, NM_001171812.2:c.1301T>G, NM_001171812.2:c.1301T>C, NM_001171812.1:c.1301T>G, NM_001171812.1:c.1301T>C, NG_042867.1:g.1714A>C, NG_042867.1:g.1714A>G, NW_003315906.1:g.40275A>C, NW_003315906.1:g.40275A>G, NM_001005749.1:c.1448T>G, NM_001005749.1:c.1448T>C, NM_001005750.1:c.1448T>G, NM_001005750.1:c.1448T>C, NP_000148.2:p.Leu483Arg, NP_000148.2:p.Leu483Pro, NP_001005741.1:p.Leu483Arg, NP_001005741.1:p.Leu483Pro, NP_001005742.1:p.Leu483Arg, NP_001005742.1:p.Leu483Pro, NP_001165282.1:p.Leu396Arg, NP_001165282.1:p.Leu396Pro, NP_001165283.1:p.Leu434Arg, NP_001165283.1:p.Leu434Pro
                                      20.

                                      rs459552 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,G [Show Flanks]
                                        Chromosome:
                                        5:112841059 (GRCh38)
                                        5:112176756 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:112841058:T:A,NC_000005.10:112841058:T:G
                                        Gene:
                                        APC (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Clinical significance:
                                        uncertain-significance,benign,other
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.221011/20676 (ALFA)
                                        T=0.078603/144 (Korea1K)
                                        T=0.084642/248 (KOREAN)
                                        T=0.094391/1582 (TOMMO)
                                        T=0.106599/84 (PRJEB37584)
                                        T=0.107713/8477 (PAGE_STUDY)
                                        T=0.114045/203 (HapMap)
                                        T=0.124542/68 (SGDP_PRJ)
                                        T=0.125/5 (GENOME_DK)
                                        T=0.128664/79 (Vietnamese)
                                        T=0.134585/674 (1000Genomes)
                                        T=0.158895/42058 (TOPMED)
                                        T=0.173743/2259 (GoESP)
                                        T=0.175926/38 (Qatari)
                                        T=0.179007/25080 (GnomAD)
                                        T=0.192308/10 (Siberian)
                                        T=0.196393/196 (GoNL)
                                        T=0.201895/24418 (ExAC)
                                        T=0.205175/51391 (GnomAD_exomes)
                                        T=0.221588/854 (ALSPAC)
                                        T=0.2397/128 (MGP)
                                        T=0.2411/894 (TWINSUK)
                                        T=0.285/171 (NorthernSweden)
                                        T=0.31183/1397 (Estonian)
                                        T=0.327815/99 (FINRISK)
                                        HGVS:
                                        NC_000005.10:g.112841059T>A, NC_000005.10:g.112841059T>G, NC_000005.9:g.112176756T>A, NC_000005.9:g.112176756T>G, NG_008481.4:g.153539T>A, NG_008481.4:g.153539T>G, NM_000038.6:c.5465T>A, NM_000038.6:c.5465T>G, NM_000038.5:c.5465T>A, NM_000038.5:c.5465T>G, NM_001127510.3:c.5465T>A, NM_001127510.3:c.5465T>G, NM_001127510.2:c.5465T>A, NM_001127510.2:c.5465T>G, NM_001127511.3:c.5411T>A, NM_001127511.3:c.5411T>G, NM_001127511.2:c.5411T>A, NM_001127511.2:c.5411T>G, NM_001354895.2:c.5465T>A, NM_001354895.2:c.5465T>G, NM_001354895.1:c.5465T>A, NM_001354895.1:c.5465T>G, NM_001354897.2:c.5495T>A, NM_001354897.2:c.5495T>G, NM_001354897.1:c.5495T>A, NM_001354897.1:c.5495T>G, NM_001354906.2:c.4616T>A, NM_001354906.2:c.4616T>G, NM_001354906.1:c.4616T>A, NM_001354906.1:c.4616T>G, NM_001354896.2:c.5519T>A, NM_001354896.2:c.5519T>G, NM_001354896.1:c.5519T>A, NM_001354896.1:c.5519T>G, NM_001354898.2:c.5390T>A, NM_001354898.2:c.5390T>G, NM_001354898.1:c.5390T>A, NM_001354898.1:c.5390T>G, NM_001354899.2:c.5381T>A, NM_001354899.2:c.5381T>G, NM_001354899.1:c.5381T>A, NM_001354899.1:c.5381T>G, NM_001354900.2:c.5342T>A, NM_001354900.2:c.5342T>G, NM_001354900.1:c.5342T>A, NM_001354900.1:c.5342T>G, NM_001354902.2:c.5192T>A, NM_001354902.2:c.5192T>G, NM_001354902.1:c.5192T>A, NM_001354902.1:c.5192T>G, NM_001354901.2:c.5288T>A, NM_001354901.2:c.5288T>G, NM_001354901.1:c.5288T>A, NM_001354901.1:c.5288T>G, NM_001354903.2:c.5162T>A, NM_001354903.2:c.5162T>G, NM_001354903.1:c.5162T>A, NM_001354903.1:c.5162T>G, NM_001354904.2:c.5087T>A, NM_001354904.2:c.5087T>G, NM_001354904.1:c.5087T>A, NM_001354904.1:c.5087T>G, NM_001354905.2:c.4985T>A, NM_001354905.2:c.4985T>G, NM_001354905.1:c.4985T>A, NM_001354905.1:c.4985T>G, NP_000029.2:p.Val1822Asp, NP_000029.2:p.Val1822Gly, NP_001120982.1:p.Val1822Asp, NP_001120982.1:p.Val1822Gly, NP_001120983.2:p.Val1804Asp, NP_001120983.2:p.Val1804Gly, NP_001341824.1:p.Val1822Asp, NP_001341824.1:p.Val1822Gly, NP_001341826.1:p.Val1832Asp, NP_001341826.1:p.Val1832Gly, NP_001341835.1:p.Val1539Asp, NP_001341835.1:p.Val1539Gly, NP_001341825.1:p.Val1840Asp, NP_001341825.1:p.Val1840Gly, NP_001341827.1:p.Val1797Asp, NP_001341827.1:p.Val1797Gly, NP_001341828.1:p.Val1794Asp, NP_001341828.1:p.Val1794Gly, NP_001341829.1:p.Val1781Asp, NP_001341829.1:p.Val1781Gly, NP_001341831.1:p.Val1731Asp, NP_001341831.1:p.Val1731Gly, NP_001341830.1:p.Val1763Asp, NP_001341830.1:p.Val1763Gly, NP_001341832.1:p.Val1721Asp, NP_001341832.1:p.Val1721Gly, NP_001341833.1:p.Val1696Asp, NP_001341833.1:p.Val1696Gly, NP_001341834.1:p.Val1662Asp, NP_001341834.1:p.Val1662Gly

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