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 13 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P37023 | non-pleiotropic | VAR_026800 | p.Arg374Gln | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026785 | p.Gly48Arg | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026799 | p.Ala347Pro | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_006211 | p.Arg374Trp | Disease | rs28936401 | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026807 | p.Glu407Asp | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_006210 | p.Ser333Ile | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
Q03154 | non-pleiotropic | VAR_043114 | p.Arg393His | Disease | rs121912701 | 0.0028 | Aminoacylase-1 deficiency (ACY1D) [MIM:609924] |
Q03154 | non-pleiotropic | VAR_026104 | p.Glu233Asp | Disease | - | - | Aminoacylase-1 deficiency (ACY1D) [MIM:609924] |
Q03154 | non-pleiotropic | VAR_020452 | p.Arg386Cys | Disease | rs2229152 | 0.0054 | Aminoacylase-1 deficiency (ACY1D) [MIM:609924] |
Q03154 | non-pleiotropic | VAR_065563 | p.Arg378Trp | Disease | - | - | Aminoacylase-1 deficiency (ACY1D) [MIM:609924] |
Q03154 | non-pleiotropic | VAR_065562 | p.Arg378Gln | Disease | - | - | Aminoacylase-1 deficiency (ACY1D) [MIM:609924] |
Q03154 | non-pleiotropic | VAR_043113 | p.Arg197Trp | Disease | - | - | Aminoacylase-1 deficiency (ACY1D) [MIM:609924] |
Q03154 | non-pleiotropic | VAR_051805 | p.Asn179Ser | Non-Disease | rs887540 | 0.0046 | - |
Q03154 | non-pleiotropic | VAR_026105 | p.Arg353Cys | Disease | rs121912698 | 0.0006 | Aminoacylase-1 deficiency (ACY1D) [MIM:609924] |
Q9H324 | non-pleiotropic | VAR_054441 | p.Thr134Ser | Non-Disease | rs7255721 | 0.1478 | - |
Q9H324 | non-pleiotropic | VAR_054440 | p.Arg119Gln | Non-Disease | rs3814291 | 0.0161 | - |
Q9H324 | non-pleiotropic | VAR_054439 | p.Ala25Thr | Disease | - | - | Weill-Marchesani syndrome 1 (WMS1) [MIM:277600] |
Q76LX8 | non-pleiotropic | VAR_027163 | p.Pro457Leu | Non-Disease | rs36220240 | 0.0018 | - |
Q76LX8 | non-pleiotropic | VAR_067776 | p.Ser263Cys | Disease | rs281875293 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027162 | p.Gln456His | Non-Disease | rs36220239 | 0.0142 | - |
Q76LX8 | non-pleiotropic | VAR_067790 | p.Cys908Ser | Disease | rs281875301 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027117 | p.Arg268Pro | Disease | rs121908477 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027128 | p.Ala732Val | Non-Disease | rs41314453 | 0.0096 | - |
Q76LX8 | non-pleiotropic | VAR_067777 | p.Tyr304Cys | Disease | rs281875285 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027126 | p.Ile673Phe | Disease | rs281875307 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027112 | p.Arg102Cys | Disease | rs121908469 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_067775 | p.Asp235His | Disease | rs281875337 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_067783 | p.Arg507Gln | Disease | rs281875296 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_067788 | p.Pro671Leu | Disease | rs281875295 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027111 | p.His96Asp | Disease | rs121908467 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_067781 | p.Arg349Cys | Disease | rs281875288 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_067786 | p.Ala606Pro | Disease | rs281875290 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027115 | p.His234Gln | Disease | rs281875304 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027109 | p.Arg7Trp | Non-Disease | rs34024143 | 0.0702 | - |
Q76LX8 | non-pleiotropic | VAR_027130 | p.Ser903Leu | Non-Disease | rs78977446 | 0.0106 | - |
Q76LX8 | non-pleiotropic | VAR_027118 | p.Trp390Cys | Disease | rs281875306 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027124 | p.Pro618Ala | Non-Disease | rs28647808 | 0.0441 | - |
Q76LX8 | non-pleiotropic | VAR_027164 | p.Glu740Lys | Non-Disease | rs36221451 | 0.0073 | - |
Q76LX8 | non-pleiotropic | VAR_027119 | p.Arg398His | Disease | rs121908471 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027165 | p.Gly982Arg | Non-Disease | rs36222275 | 0.0023 | - |
Q76LX8 | non-pleiotropic | VAR_027122 | p.Cys508Tyr | Disease | rs281875305 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027121 | p.Pro475Ser | Non-Disease | rs11575933 | 0.0092 | - |
Q76LX8 | non-pleiotropic | VAR_067780 | p.Cys347Ser | Disease | rs281875294 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027139 | p.Arg1336Trp | Disease | rs281875308 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_067772 | p.Ile178Thr | Disease | rs281875289 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_067793 | p.Arg1219Trp | Disease | rs281875339 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027116 | p.Ala250Val | Disease | rs121908478 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027137 | p.Cys1213Tyr | Disease | rs121908474 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
Q76LX8 | non-pleiotropic | VAR_027120 | p.Gln448Glu | Non-Disease | rs2301612 | 0.275 | - |
Q76LX8 | non-pleiotropic | VAR_027131 | p.Cys908Tyr | Disease | rs281875301 | - | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |