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 100 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P20711 | non-pleiotropic | VAR_019214 | p.Glu61Asp | Non-Disease | rs11575292 | 0.0078 | - |
P20711 | non-pleiotropic | VAR_014789 | p.Pro210Leu | Non-Disease | rs6262 | 0.011 | - |
P20711 | non-pleiotropic | VAR_019216 | p.Met239Leu | Non-Disease | rs11575376 | - | - |
P20711 | non-pleiotropic | VAR_019215 | p.Met239Ile | Non-Disease | rs11575377 | 0.0008 | - |
O94830 | non-pleiotropic | VAR_036930 | p.Thr186Met | Non-Disease | rs2306899 | 0.2204 | - |
O94830 | non-pleiotropic | VAR_069574 | p.Asp660His | Disease | - | - | Spastic paraplegia 54, autosomal recessive (SPG54) [MIM:615033] |
P39656 | non-pleiotropic | VAR_047911 | p.Arg8Gly | Non-Disease | rs537816 | 0.0188 | - |
P39656 | non-pleiotropic | VAR_067544 | p.Gly217Asp | Disease | - | - | Congenital disorder of glycosylation 1R (CDG1R) [MIM:614507] |
Q16832 | non-pleiotropic | VAR_065719 | p.Glu113Lys | Disease | - | - | Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665] |
Q16832 | non-pleiotropic | VAR_063050 | p.Thr713Ile | Disease | - | - | Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665] |
Q16832 | non-pleiotropic | VAR_041500 | p.Arg478Cys | Non-Disease | rs34869543 | - | - |
Q16832 | non-pleiotropic | VAR_063051 | p.Ile726Arg | Disease | - | - | Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665] |
Q16832 | non-pleiotropic | VAR_041499 | p.Met441Ile | Non-Disease | rs34722354 | 0.0087 | - |
Q16832 | non-pleiotropic | VAR_041501 | p.Val543Phe | Non-Disease | rs55973200 | - | - |
Q16832 | non-pleiotropic | VAR_063052 | p.Arg752Cys | Disease | - | - | Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665] |
Q96FC9 | non-pleiotropic | VAR_052176 | p.Cys864Arg | Non-Disease | rs3893679 | - | - |
Q96FC9 | non-pleiotropic | VAR_069099 | p.Arg263Gln | Disease | - | - | Warsaw breakage syndrome (WBRS) [MIM:613398] |
Q96FC9 | non-pleiotropic | VAR_052178 | p.Trp966Cys | Non-Disease | rs14330 | - | - |
Q96FC9 | non-pleiotropic | VAR_024810 | p.Thr575Met | Non-Disease | rs17857386 | - | - |
Q96FC9 | non-pleiotropic | VAR_052175 | p.Arg856His | Non-Disease | rs1046457 | 0.4669 | - |
Q96FC9 | non-pleiotropic | VAR_052177 | p.Cys951Arg | Non-Disease | rs1046458 | 0.4596 | - |
Q96FC9 | non-pleiotropic | VAR_024808 | p.Ile39Ser | Non-Disease | rs1046454 | - | - |
Q96FC9 | non-pleiotropic | VAR_024809 | p.Gln567Glu | Non-Disease | rs2075322 | 0.3627 | - |
Q5T1V6 | non-pleiotropic | VAR_070198 | p.Val367Gly | Disease | - | - | Orofaciodigital syndrome 5 (OFD5) [MIM:174300] |
Q5T1V6 | non-pleiotropic | VAR_031424 | p.Ile107Val | Non-Disease | rs3795634 | 0.1988 | - |
Q5T1V6 | non-pleiotropic | VAR_033001 | p.Ser472Arg | Non-Disease | rs17854157 | - | - |
Q5T1V6 | non-pleiotropic | VAR_070199 | p.Gly534Arg | Disease | - | - | Orofaciodigital syndrome 5 (OFD5) [MIM:174300] |
O75140 | non-pleiotropic | VAR_024338 | p.Ser491Thr | Non-Disease | rs8138516 | 0.0321 | - |
O75140 | non-pleiotropic | VAR_069266 | p.Ser1104Leu | Disease | - | - | Epilepsy, familial focal, with variable foci (FFEVF) [MIM:604364] |
O75140 | non-pleiotropic | VAR_053954 | p.Ser712Phe | Non-Disease | rs16989535 | 0.0216 | - |
O75140 | non-pleiotropic | VAR_069264 | p.Arg485Gln | Disease | - | - | Epilepsy, familial focal, with variable foci (FFEVF) [MIM:604364] |
O75140 | non-pleiotropic | VAR_069265 | p.Ser1073Arg | Disease | - | - | Epilepsy, familial focal, with variable foci (FFEVF) [MIM:604364] |
O75140 | non-pleiotropic | VAR_069263 | p.Ala452Val | Disease | - | - | Epilepsy, familial focal, with variable foci (FFEVF) [MIM:604364] |
O75140 | non-pleiotropic | VAR_053953 | p.Ala641Val | Non-Disease | rs16989528 | 0.0308 | - |
P17661 | pleiotropic | VAR_042448 | p.Ser2Ile | Disease | rs58999456 | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_042463 | p.Ser460Ile | Disease | - | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_042459 | p.Thr442Ile | Disease | - | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_069192 | p.Lys241Glu | Non-Disease | rs201945924 | 0.0002 | - |
P17661 | pleiotropic | VAR_042454 | p.Arg350Pro | Disease | rs57965306 | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400] |
P17661 | pleiotropic | VAR_069191 | p.Asn116Ser | Disease | rs267607499 | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_067207 | p.Ser7Phe | Disease | - | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_007900 | p.Ala337Pro | Disease | rs59962885 | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_042452 | p.Glu245Asp | Disease | - | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_042456 | p.Ala357Pro | Disease | rs58898021 | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_007902 | p.Asn393Ile | Disease | - | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_042451 | p.Ala213Val | Non-Disease | rs41272699 | 0.0056 | - |
P17661 | pleiotropic | VAR_067211 | p.Glu401Lys | Disease | - | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_018773 | p.Ile451Met | Disease | rs121913002 | 0.0022 | Cardiomyopathy, dilated 1I (CMD1I) [MIM:604765] Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_042460 | p.Lys449Met | Disease | - | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_067208 | p.Ser13Phe | Disease | - | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |