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 164 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P43026 | pleiotropic | VAR_037982 | p.Ser475Asn | Disease | - | - | Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] |
P43026 | pleiotropic | VAR_037983 | p.Glu491Lys | Disease | - | - | Symphalangism, proximal 1B (SYM1B) [MIM:615298] |
P43026 | pleiotropic | VAR_046743 | p.Arg380Gln | Disease | - | - | Brachydactyly A2 (BDA2) [MIM:112600] |
P43026 | pleiotropic | VAR_064416 | p.Arg399Cys | Disease | - | - | Brachydactyly A1, C (BDA1C) [MIM:615072] |
P43026 | pleiotropic | VAR_054911 | p.Pro436Thr | Disease | - | - | Du Pan syndrome (DPS) [MIM:228900] |
P43026 | pleiotropic | VAR_054909 | p.Leu373Arg | Disease | - | - | Symphalangism, proximal 1B (SYM1B) [MIM:615298] |
P43026 | pleiotropic | VAR_037978 | p.Met173Val | Disease | rs28936397 | - | Brachydactyly C (BDC) [MIM:113100] |
P43026 | pleiotropic | VAR_026120 | p.Ser276Ala | Non-Disease | rs224331 | 0.3356 | - |
P43026 | pleiotropic | VAR_026545 | p.Arg438Leu | Disease | - | - | Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] Symphalangism, proximal 1B (SYM1B) [MIM:615298] |
P43026 | pleiotropic | VAR_037981 | p.His440Leu | Disease | - | - | Du Pan syndrome (DPS) [MIM:228900] |
P43026 | pleiotropic | VAR_017408 | p.Leu441Pro | Disease | rs28936683 | - | Brachydactyly A2 (BDA2) [MIM:112600] Du Pan syndrome (DPS) [MIM:228900] |
P43026 | pleiotropic | VAR_037977 | p.Arg163Gly | Non-Disease | rs34534075 | - | - |
P43026 | pleiotropic | VAR_054910 | p.Arg378Gln | Disease | - | - | Du Pan syndrome (DPS) [MIM:228900] |
P43026 | pleiotropic | VAR_017407 | p.Cys400Tyr | Disease | - | - | Acromesomelic chondrodysplasia, Grebe type (AMDG) [MIM:200700] |
Q6KF10 | pleiotropic | VAR_063025 | p.Gln119Arg | Disease | rs140579014 | 0.0004 | Microphthalmia, isolated, 4 (MCOP4) [MIM:613094] |
Q6KF10 | pleiotropic | VAR_070254 | p.Asp57His | Disease | - | - | Leber congenital amaurosis 17 (LCA17) [MIM:615360] |
Q6KF10 | pleiotropic | VAR_063026 | p.Asp216Gly | Disease | - | - | Microphthalmia, isolated, 4 (MCOP4) [MIM:613094] |
Q6KF10 | pleiotropic | VAR_063028 | p.Pro327His | Disease | - | - | Microphthalmia, isolated, 4 (MCOP4) [MIM:613094] |
Q6KF10 | pleiotropic | VAR_063029 | p.Lys424Arg | Disease | rs121909353 | 0.0008 | Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100] |
Q6KF10 | pleiotropic | VAR_065151 | p.Ala199Thr | Disease | - | - | Leber congenital amaurosis 17 (LCA17) [MIM:615360] |
Q6KF10 | pleiotropic | VAR_063024 | p.Gly42Val | Disease | rs121909354 | 0.0014 | Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100] |
Q6KF10 | pleiotropic | VAR_063027 | p.Gln253Leu | Disease | - | - | Microphthalmia, isolated, 4 (MCOP4) [MIM:613094] |
Q6KF10 | pleiotropic | VAR_070255 | p.Glu292Asp | Disease | - | - | Leber congenital amaurosis 17 (LCA17) [MIM:615360] |
Q6KF10 | pleiotropic | VAR_023599 | p.Lys110Glu | Non-Disease | rs2245091 | - | - |
Q6KF10 | pleiotropic | VAR_046904 | p.Leu289Pro | Disease | - | - | Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100] |
Q6KF10 | pleiotropic | VAR_046903 | p.Ala249Glu | Disease | - | - | Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100] Leber congenital amaurosis 17 (LCA17) [MIM:615360] Microphthalmia, isolated, 4 (MCOP4) [MIM:613094] |
P31150 | non-pleiotropic | VAR_008131 | p.Arg423Pro | Disease | - | - | Mental retardation, X-linked 41 (MRX41) [MIM:300849] |
P31150 | non-pleiotropic | VAR_008130 | p.Leu92Pro | Disease | - | - | Mental retardation, X-linked 41 (MRX41) [MIM:300849] |
P14136 | non-pleiotropic | VAR_017468 | p.Arg79His | Disease | rs59285727 | - | Alexander disease (ALEXD) [MIM:203450] |
P14136 | non-pleiotropic | VAR_017473 | p.Ala244Val | Disease | rs61497286 | - | Alexander disease (ALEXD) [MIM:203450] |
P14136 | non-pleiotropic | VAR_017475 | p.Glu362Asp | Disease | rs28932768 | - | Alexander disease (ALEXD) [MIM:203450] |
P14136 | non-pleiotropic | VAR_017476 | p.Arg416Trp | Disease | - | - | Alexander disease (ALEXD) [MIM:203450] |
P14136 | non-pleiotropic | VAR_017467 | p.Arg79Cys | Disease | rs59793293 | - | Alexander disease (ALEXD) [MIM:203450] |
P14136 | non-pleiotropic | VAR_017471 | p.Arg239Cys | Disease | rs58064122 | - | Alexander disease (ALEXD) [MIM:203450] |
P14136 | non-pleiotropic | VAR_017466 | p.Asn77Tyr | Disease | rs58732244 | - | Alexander disease (ALEXD) [MIM:203450] |
P14136 | non-pleiotropic | VAR_017479 | p.Asp295Asn | Non-Disease | rs1126642 | 0.0574 | - |
P14136 | non-pleiotropic | VAR_017478 | p.Glu223Gln | Disease | rs56679084 | 0.0004 | Alexander disease (ALEXD) [MIM:203450] |
P14136 | non-pleiotropic | VAR_017465 | p.Leu76Phe | Disease | rs57120761 | - | Alexander disease (ALEXD) [MIM:203450] |
P14136 | non-pleiotropic | VAR_017477 | p.Asp78Glu | Disease | - | - | Alexander disease (ALEXD) [MIM:203450] |
P14136 | non-pleiotropic | VAR_017472 | p.Arg239His | Disease | rs59565950 | - | Alexander disease (ALEXD) [MIM:203450] |
P14136 | non-pleiotropic | VAR_017470 | p.Arg88Ser | Disease | - | - | Alexander disease (ALEXD) [MIM:203450] |
P14136 | non-pleiotropic | VAR_017469 | p.Arg88Cys | Disease | rs61622935 | - | Alexander disease (ALEXD) [MIM:203450] |
P14136 | non-pleiotropic | VAR_017474 | p.Arg258Pro | Disease | rs61726468 | - | Alexander disease (ALEXD) [MIM:203450] |
P55789 | non-pleiotropic | VAR_061994 | p.Phe166Leu | Non-Disease | rs36041021 | 0.0432 | - |
P55789 | non-pleiotropic | VAR_063435 | p.Arg194His | Disease | rs121908192 | - | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCHD) [MIM:613076] |
Q96RP9 | non-pleiotropic | VAR_021512 | p.Asn174Ser | Disease | rs28939098 | - | Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060] |
Q96RP9 | non-pleiotropic | VAR_028303 | p.Val215Ile | Non-Disease | rs2303909 | 0.4481 | - |
Q96RP9 | non-pleiotropic | VAR_031901 | p.Met496Arg | Disease | - | - | Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060] |
Q06210 | non-pleiotropic | VAR_065342 | p.Arg111Cys | Disease | rs201322234 | 0.0002 | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542] |
Q06210 | non-pleiotropic | VAR_065347 | p.Arg452His | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542] |