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 216 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P98164 | non-pleiotropic | VAR_029182 | p.Asp1279Ala | Non-Disease | rs17848149 | 0.0335 | - |
P98164 | non-pleiotropic | VAR_037010 | p.Gly669Asp | Non-Disease | rs34291900 | 0.0161 | - |
P98164 | non-pleiotropic | VAR_005422 | p.Ala2872Thr | Non-Disease | rs2228171 | 0.3232 | - |
P98164 | non-pleiotropic | VAR_037009 | p.Asn83Ser | Non-Disease | rs2229263 | 0.309 | - |
O75096 | pleiotropic | VAR_066631 | p.Trp1186Ser | Disease | - | - | Sclerosteosis 2 (SOST2) [MIM:614305] |
O75096 | pleiotropic | VAR_058290 | p.Leu314Ser | Non-Disease | rs7926667 | 0.0455 | - |
O75096 | pleiotropic | VAR_063780 | p.Leu473Phe | Disease | - | - | Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] |
O75096 | pleiotropic | VAR_063778 | p.Asp449Asn | Disease | - | - | Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] |
O75096 | pleiotropic | VAR_057957 | p.Arg1646Gln | Non-Disease | rs3816614 | 0.4215 | - |
O75096 | pleiotropic | VAR_057956 | p.Ser1554Gly | Non-Disease | rs2306029 | 0.3522 | - |
O75096 | pleiotropic | VAR_058292 | p.Ala1238Thr | Non-Disease | rs2306031 | - | - |
O75096 | pleiotropic | VAR_066630 | p.Arg1170Trp | Disease | - | - | Sclerosteosis 2 (SOST2) [MIM:614305] |
O75096 | pleiotropic | VAR_063782 | p.Cys1017Arg | Disease | - | - | Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] |
O75096 | pleiotropic | VAR_063781 | p.Asp529Asn | Disease | - | - | Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] |
O75096 | pleiotropic | VAR_058291 | p.Ala1203Val | Non-Disease | rs2306033 | 0.2456 | - |
O75096 | pleiotropic | VAR_063779 | p.Thr461Pro | Disease | - | - | Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] |
O75096 | pleiotropic | VAR_063776 | p.Asp137Asn | Disease | - | - | Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] |
O75096 | pleiotropic | VAR_063777 | p.Cys160Tyr | Disease | - | - | Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] |
O75096 | pleiotropic | VAR_057955 | p.Ile1086Val | Non-Disease | rs6485702 | 0.4298 | - |
O75197 | pleiotropic | VAR_063944 | p.Arg154Met | Disease | - | - | High bone mass trait (HBM) [MIM:601884] |
O75197 | pleiotropic | VAR_021812 | p.Ala242Thr | Disease | - | - | Endosteal hyperostosis, Worth type (WENHY) [MIM:144750] Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634] Van Buchem disease 2 (VBCH2) [MIM:607636] |
O75197 | pleiotropic | VAR_021814 | p.Arg494Gln | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_063965 | p.Asn531Ile | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_063962 | p.Asp511Ala | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_021815 | p.Arg570Trp | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_021807 | p.Asp111Tyr | Disease | - | - | Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634] |
O75197 | pleiotropic | VAR_021224 | p.Glu1367Lys | Disease | rs28939709 | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_063956 | p.Glu441Lys | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_063960 | p.Trp478Arg | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_063966 | p.Thr535Met | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_063975 | p.Asp1099Tyr | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_021808 | p.Gly171Arg | Disease | - | - | Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634] |
O75197 | pleiotropic | VAR_071014 | p.Gln816Pro | Non-Disease | - | - | - |
O75197 | pleiotropic | VAR_063952 | p.Ala400Glu | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_021811 | p.Ala214Val | Disease | - | - | Endosteal hyperostosis, Worth type (WENHY) [MIM:144750] |
O75197 | pleiotropic | VAR_063961 | p.Trp504Cys | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_071012 | p.Ala422Thr | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_063963 | p.Gly520Val | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_063964 | p.Ala522Thr | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_063945 | p.Asp203Asn | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_021817 | p.Ala1330Val | Non-Disease | rs3736228 | 0.1354 | - |
O75197 | pleiotropic | VAR_063942 | p.Ala97Val | Non-Disease | rs143433231 | 0.0014 | - |
O75197 | pleiotropic | VAR_063950 | p.Ser356Leu | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_063948 | p.Arg348Trp | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_063977 | p.Asn1121Asp | Disease | rs80358317 | 0.003 | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_021806 | p.Gln89Arg | Non-Disease | rs41494349 | 0.0271 | - |
O75197 | pleiotropic | VAR_018466 | p.Tyr1168His | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_021810 | p.Ala214Thr | Disease | - | - | Endosteal hyperostosis, Worth type (WENHY) [MIM:144750] |
O75197 | pleiotropic | VAR_063981 | p.Thr1540Met | Non-Disease | rs141407040 | 0.0014 | - |
O75197 | pleiotropic | VAR_063967 | p.Gly550Arg | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |