Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
20135 items found (page 14 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q76LX8 | non-pleiotropic | VAR_027133 | p.Cys1024Gly | Disease | rs121908472 | 0.0002 | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_067771 | p.Ser119Phe | Disease | rs281875291 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_067773 | p.Ser203Pro | Disease | rs281875298 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_067778 | p.Cys311Tyr | Disease | rs281875336 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_067784 | p.Gly525Asp | Disease | rs281875286 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_067794 | p.Ser1314Leu | Non-Disease | rs142060916 | 0.0018 | - |
Q76LX8 | non-pleiotropic | VAR_067792 | p.Arg1060Trp | Disease | rs142572218 | 0.0008 | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027136 | p.Arg1123Cys | Disease | rs281875340 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027114 | p.Thr196Ile | Disease | rs121908470 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027113 | p.Arg193Trp | Disease | rs281875287 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027132 | p.Cys951Gly | Disease | rs121908468 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_067789 | p.Cys758Arg | Disease | rs281875300 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027123 | p.Arg528Gly | Disease | rs121908473 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_067779 | p.Thr339Arg | Non-Disease | rs149517360 | 0.0055 | - |
Q76LX8 | non-pleiotropic | VAR_067774 | p.Leu232Gln | Disease | rs281875292 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027129 | p.Ala900Val | Non-Disease | rs685523 | 0.0863 | - |
Q76LX8 | non-pleiotropic | VAR_027166 | p.Thr1226Ile | Non-Disease | rs36222894 | 0.0046 | - |
Q76LX8 | non-pleiotropic | VAR_027134 | p.Ala1033Thr | Non-Disease | rs28503257 | 0.0197 | - |
Q76LX8 | non-pleiotropic | VAR_067785 | p.Ala596Val | Disease | rs281875299 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027110 | p.Val88Met | Disease | rs281875302 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027127 | p.Arg692Cys | Disease | rs121908475 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027138 | p.Gly1239Val | Disease | rs281875303 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_067782 | p.Pro353Leu | Disease | rs281875338 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_067770 | p.Ile79Met | Disease | rs281875297 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027125 | p.Arg625His | Non-Disease | rs36090624 | 0.0216 | - |
Q76LX8 | non-pleiotropic | VAR_067787 | p.Tyr658Cys | Disease | rs281875335 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q8TE60 | non-pleiotropic | VAR_057086 | p.Ser1159Thr | Non-Disease | rs3743749 | 0.1676 | - |
Q8TE60 | non-pleiotropic | VAR_057085 | p.Ser1080Arg | Non-Disease | rs35478105 | 0.2741 | - |
Q8TE60 | non-pleiotropic | VAR_057084 | p.Ala946Ser | Non-Disease | rs12935394 | 0.124 | - |
Q8TE60 | non-pleiotropic | VAR_070850 | p.Cys577Trp | Disease | - | - | Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458] |
Q8TE60 | non-pleiotropic | VAR_060231 | p.Tyr191His | Non-Disease | rs11643211 | 0.365 | - |
Q8TE60 | non-pleiotropic | VAR_060232 | p.Leu626Ile | Non-Disease | rs11640912 | 0.4747 | - |
Q8TE60 | non-pleiotropic | VAR_070849 | p.Leu202Pro | Disease | - | - | Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458] |
Q8TE60 | non-pleiotropic | VAR_057083 | p.Leu769Ile | Non-Disease | rs9930984 | 0.3829 | - |
Q8TE60 | non-pleiotropic | VAR_066554 | p.Ser179Leu | Non-Disease | rs387906972 | - | - |
Q86TH1 | non-pleiotropic | VAR_046011 | p.Val364Ile | Non-Disease | rs35767802 | - | - |
Q86TH1 | non-pleiotropic | VAR_066552 | p.Ser635Leu | Disease | - | - | Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] |
Q86TH1 | non-pleiotropic | VAR_054875 | p.Glu114Lys | Disease | - | - | Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] |
Q86TH1 | non-pleiotropic | VAR_066543 | p.Trp50Cys | Disease | - | - | Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] |
Q86TH1 | non-pleiotropic | VAR_066547 | p.Cys171Arg | Disease | - | - | Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] |
Q86TH1 | non-pleiotropic | VAR_066548 | p.Arg221Cys | Disease | - | - | Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] |
Q86TH1 | non-pleiotropic | VAR_054876 | p.Pro147Leu | Disease | - | - | Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] |
Q86TH1 | non-pleiotropic | VAR_054877 | p.Gly811Arg | Disease | - | - | Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] |
Q86TH1 | non-pleiotropic | VAR_066545 | p.Arg159Trp | Disease | - | - | Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] |
Q86TH1 | non-pleiotropic | VAR_066544 | p.Arg72Gln | Disease | - | - | Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] |
Q86TH1 | non-pleiotropic | VAR_066546 | p.Ala165Thr | Disease | - | - | Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] |
Q86TH1 | non-pleiotropic | VAR_054874 | p.Arg113His | Disease | - | - | Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] |
Q86TH1 | non-pleiotropic | VAR_066549 | p.Ala239Thr | Disease | - | - | Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] |
Q86TH1 | non-pleiotropic | VAR_066551 | p.Arg593Cys | Disease | - | - | Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] |
Q86TH1 | non-pleiotropic | VAR_066553 | p.Pro906Leu | Disease | - | - | Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] |