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 271 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P35913 | pleiotropic | VAR_068362 | p.Asp776Asn | Disease | rs141563823 | 0.0002 | Retinitis pigmentosa 40 (RP40) [MIM:613801] |
P35913 | pleiotropic | VAR_009286 | p.Tyr219His | Disease | rs62295357 | 0.0018 | Retinitis pigmentosa 40 (RP40) [MIM:613801] |
P35913 | pleiotropic | VAR_009288 | p.Leu228Ile | Non-Disease | - | - | - |
P35913 | pleiotropic | VAR_009291 | p.Ile535Asn | Disease | - | - | Retinitis pigmentosa 40 (RP40) [MIM:613801] |
P35913 | pleiotropic | VAR_009292 | p.Arg552Gln | Disease | - | - | Retinitis pigmentosa 40 (RP40) [MIM:613801] |
P35913 | pleiotropic | VAR_009290 | p.Leu527Pro | Disease | - | - | Retinitis pigmentosa 40 (RP40) [MIM:613801] |
P35913 | pleiotropic | VAR_006051 | p.Gly576Asp | Disease | - | - | Retinitis pigmentosa 40 (RP40) [MIM:613801] |
P35913 | pleiotropic | VAR_006050 | p.His557Tyr | Disease | - | - | Retinitis pigmentosa 40 (RP40) [MIM:613801] |
P35913 | pleiotropic | VAR_009284 | p.Glu166Lys | Non-Disease | rs115775983 | 0.0078 | - |
P35913 | pleiotropic | VAR_009285 | p.Tyr212His | Non-Disease | - | - | - |
P35913 | pleiotropic | VAR_006052 | p.Leu699Arg | Disease | - | - | Retinitis pigmentosa 40 (RP40) [MIM:613801] |
P35913 | pleiotropic | VAR_009283 | p.Arg74Cys | Disease | - | - | Retinitis pigmentosa 40 (RP40) [MIM:613801] |
P35913 | pleiotropic | VAR_009293 | p.Leu854Arg | Disease | - | - | Retinitis pigmentosa 40 (RP40) [MIM:613801] |
P35913 | pleiotropic | VAR_009289 | p.His258Asn | Disease | - | - | Night blindness, congenital stationary, autosomal dominant 2 (CSNBAD2) [MIM:163500] |
P35913 | pleiotropic | VAR_054868 | p.Val320Ile | Non-Disease | rs10902758 | 0.0005 | - |
P35913 | pleiotropic | VAR_009287 | p.Leu228His | Disease | - | - | Retinitis pigmentosa 40 (RP40) [MIM:613801] |
P35913 | pleiotropic | VAR_054869 | p.Glu654Asp | Non-Disease | rs17849286 | - | - |
P51160 | non-pleiotropic | VAR_050476 | p.Glu699Ala | Non-Disease | rs12261131 | 0.0165 | - |
P51160 | non-pleiotropic | VAR_062410 | p.Met455Val | Disease | - | - | Cone dystrophy 4 (COD4) [MIM:613093] |
P51160 | non-pleiotropic | VAR_025470 | p.Asp157Glu | Non-Disease | rs76999928 | 0.0106 | - |
P51160 | non-pleiotropic | VAR_025471 | p.Lys822Asn | Non-Disease | rs79487435 | 0.0028 | - |
P51160 | non-pleiotropic | VAR_062408 | p.Arg29Trp | Disease | - | - | Cone dystrophy 4 (COD4) [MIM:613093] |
P51160 | non-pleiotropic | VAR_050475 | p.Ser270Thr | Non-Disease | rs701865 | 0.4279 | - |
P51160 | non-pleiotropic | VAR_025472 | p.Glu834Gly | Non-Disease | - | - | - |
P51160 | non-pleiotropic | VAR_062409 | p.Tyr323Asn | Disease | - | - | Cone dystrophy 4 (COD4) [MIM:613093] |
P09619 | pleiotropic | VAR_069321 | p.Arg987Trp | Disease | - | - | Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007] |
P09619 | pleiotropic | VAR_035125 | p.Ser180Phe | Non-Disease | rs17853027 | - | - |
P09619 | pleiotropic | VAR_042030 | p.Asn718Tyr | Non-Disease | rs35322465 | - | - |
P09619 | pleiotropic | VAR_069320 | p.Leu658Pro | Disease | - | - | Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007] |
P09619 | pleiotropic | VAR_034377 | p.Ile29Phe | Non-Disease | rs17110944 | 0.0744 | - |
P09619 | pleiotropic | VAR_042028 | p.Glu485Lys | Non-Disease | rs41287110 | 0.0179 | - |
P09619 | pleiotropic | VAR_049717 | p.Pro345Ser | Non-Disease | rs2229558 | 0.0041 | - |
P09619 | pleiotropic | VAR_069926 | p.Pro660Thr | Disease | rs144050370 | - | Myofibromatosis, infantile 1 (IMF1) [MIM:228550] |
P09619 | pleiotropic | VAR_069925 | p.Arg561Cys | Disease | - | - | Myofibromatosis, infantile 1 (IMF1) [MIM:228550] |
P09619 | pleiotropic | VAR_042027 | p.Glu282Lys | Non-Disease | rs34586048 | 0.0005 | - |
P08559 | pleiotropic | VAR_004956 | p.Pro217Leu | Disease | - | - | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |
P08559 | pleiotropic | VAR_021055 | p.Arg288His | Disease | - | - | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |
P08559 | pleiotropic | VAR_004958 | p.Asp258Ala | Disease | - | - | Leigh syndrome, X-linked (X-LS) [MIM:308930] |
P08559 | pleiotropic | VAR_004952 | p.Val167Met | Disease | - | - | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |
P08559 | pleiotropic | VAR_004959 | p.Arg263Gly | Disease | rs28936081 | - | Leigh syndrome, X-linked (X-LS) [MIM:308930] Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |
P08559 | pleiotropic | VAR_004960 | p.Arg263Gln | Disease | - | - | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |
P08559 | pleiotropic | VAR_004950 | p.His113Asp | Disease | - | - | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |
P08559 | pleiotropic | VAR_004963 | p.Arg302His | Disease | - | - | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |
P08559 | pleiotropic | VAR_010238 | p.Arg10Pro | Disease | - | - | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |
P08559 | pleiotropic | VAR_004961 | p.His292Leu | Disease | - | - | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |
P08559 | pleiotropic | VAR_004966 | p.Arg378His | Disease | - | - | Leigh syndrome, X-linked (X-LS) [MIM:308930] |
P08559 | pleiotropic | VAR_004954 | p.Phe205Leu | Disease | - | - | Leigh syndrome, X-linked (X-LS) [MIM:308930] |
P08559 | pleiotropic | VAR_004962 | p.Arg302Cys | Disease | - | - | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |
P08559 | pleiotropic | VAR_021054 | p.Met282Leu | Non-Disease | rs2229137 | 0.0586 | - |
P08559 | pleiotropic | VAR_021056 | p.Asp315Asn | Disease | rs28935187 | - | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |