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 217 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
O75197 | pleiotropic | VAR_063954 | p.Thr409Ala | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_063951 | p.Thr390Lys | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_063955 | p.Asp434Asn | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_063412 | p.Met282Val | Disease | - | - | High bone mass trait (HBM) [MIM:601884] |
O75197 | pleiotropic | VAR_063978 | p.Cys1253Phe | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_063979 | p.Gly1401Asp | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_063973 | p.Arg805Trp | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_071013 | p.Leu540Pro | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_063976 | p.Arg1113Cys | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_063946 | p.Thr244Met | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_063947 | p.Ser307Phe | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_063943 | p.Leu145Phe | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_063959 | p.Glu460Lys | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_021222 | p.Arg570Gln | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_063968 | p.Gly610Arg | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_018467 | p.Cys1361Gly | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_063957 | p.Arg444Cys | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_021223 | p.Arg752Gly | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_021809 | p.Gly171Val | Disease | - | - | High bone mass trait (HBM) [MIM:601884] |
O75197 | pleiotropic | VAR_063953 | p.Gly404Arg | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_021225 | p.Ala1525Val | Non-Disease | rs1127291 | 0.006 | - |
O75197 | pleiotropic | VAR_063969 | p.Phe617Cys | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_063971 | p.Tyr733His | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_063949 | p.Arg353Gln | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_021813 | p.Thr253Ile | Disease | - | - | Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634] |
O75197 | pleiotropic | VAR_021816 | p.Val667Met | Non-Disease | rs4988321 | 0.022 | - |
O75197 | pleiotropic | VAR_063970 | p.Asp683Asn | Disease | - | - | Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] |
O75197 | pleiotropic | VAR_063974 | p.Arg1036Gln | Non-Disease | rs61889560 | 0.0014 | - |
O75197 | pleiotropic | VAR_035208 | p.Val1204Leu | Non-Disease | rs11607268 | - | - |
O75197 | pleiotropic | VAR_063972 | p.Thr798Ala | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75197 | pleiotropic | VAR_018465 | p.Thr173Met | Disease | - | - | Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813] |
O75581 | non-pleiotropic | VAR_034702 | p.Arg1401His | Non-Disease | rs34815107 | 0.0046 | - |
O75581 | non-pleiotropic | VAR_034701 | p.Arg611Cys | Disease | - | - | Coronary artery disease, autosomal dominant, 2 (ADCAD2) [MIM:610947] |
O75581 | non-pleiotropic | VAR_024520 | p.Val1062Ile | Non-Disease | rs2302685 | 0.1212 | - |
O75581 | non-pleiotropic | VAR_030349 | p.Val483Ile | Non-Disease | rs7975614 | 0.0482 | - |
O75581 | non-pleiotropic | VAR_030350 | p.Ser817Cys | Non-Disease | rs2302686 | 0.0018 | - |
P42704 | non-pleiotropic | VAR_018656 | p.Ala354Val | Disease | - | - | Leigh syndrome French-Canadian type (LSFC) [MIM:220111] |
P42704 | non-pleiotropic | VAR_052935 | p.Thr478Ala | Non-Disease | rs35035668 | 0.0179 | - |
Q86X45 | non-pleiotropic | VAR_069038 | p.Ala74Pro | Disease | - | - | Ciliary dyskinesia, primary, 19 (CILD19) [MIM:614935] |
Q86X45 | non-pleiotropic | VAR_023603 | p.Thr232Ile | Non-Disease | rs2293979 | 0.4587 | - |
Q86X45 | non-pleiotropic | VAR_069039 | p.Asp146His | Disease | rs200321595 | - | Ciliary dyskinesia, primary, 19 (CILD19) [MIM:614935] |
Q86X45 | non-pleiotropic | VAR_031223 | p.Ile466Thr | Non-Disease | rs9297853 | 0.1309 | - |
Q5S007 | non-pleiotropic | VAR_024955 | p.Met1869Thr | Disease | rs35602796 | 0.0002 | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_024953 | p.Ser1647Thr | Non-Disease | rs11564148 | 0.2755 | - |
Q5S007 | non-pleiotropic | VAR_024948 | p.Arg1514Gln | Disease | rs35507033 | 0.0016 | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_047022 | p.Asp1375Glu | Non-Disease | rs28365226 | - | - |
Q5S007 | non-pleiotropic | VAR_024947 | p.Arg1441His | Disease | rs34995376 | - | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_024951 | p.Arg1628Pro | Non-Disease | rs33949390 | 0.0051 | - |
Q5S007 | non-pleiotropic | VAR_054749 | p.Glu2395Lys | Non-Disease | - | - | - |
Q5S007 | non-pleiotropic | VAR_054748 | p.Arg2143His | Disease | - | - | Parkinson disease 8 (PARK8) [MIM:607060] |