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 10 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q4G176 | non-pleiotropic | VAR_066505 | p.Pro243Leu | Disease | rs140986055 | 0.0004 | Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] |
O60488 | non-pleiotropic | VAR_013180 | p.Arg570Ser | Disease | - | - | Mental retardation, X-linked 63 (MRX63) [MIM:300387] |
P62736 | pleiotropic | VAR_011944 | p.Thr196Ser | Non-Disease | rs1803028 | - | - |
P62736 | pleiotropic | VAR_045922 | p.Arg292Gly | Disease | - | - | Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] |
P62736 | pleiotropic | VAR_045917 | p.Tyr135His | Disease | - | - | Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] |
P62736 | pleiotropic | VAR_045921 | p.Arg258His | Disease | - | - | Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] |
P62736 | pleiotropic | VAR_062577 | p.Arg39His | Disease | - | - | Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] |
P62736 | pleiotropic | VAR_062578 | p.Tyr145Cys | Disease | - | - | Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] |
P62736 | pleiotropic | VAR_062580 | p.Arg212Gln | Disease | - | - | Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] |
P62736 | pleiotropic | VAR_062579 | p.Arg185Gln | Disease | - | - | Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] |
P62736 | pleiotropic | VAR_045915 | p.Asn117Thr | Disease | - | - | Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] |
P62736 | pleiotropic | VAR_045916 | p.Arg118Gln | Disease | - | - | Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] |
P62736 | pleiotropic | VAR_011946 | p.His373Pro | Non-Disease | rs1062398 | - | - |
P62736 | pleiotropic | VAR_045918 | p.Arg149Cys | Disease | - | - | Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] |
P62736 | pleiotropic | VAR_062581 | p.Thr326Asn | Disease | - | - | Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] |
P62736 | pleiotropic | VAR_045923 | p.Thr353Asn | Disease | - | - | Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] |
P62736 | pleiotropic | VAR_045919 | p.Val154Ala | Disease | - | - | Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] |
P62736 | pleiotropic | VAR_011945 | p.Thr320Ala | Non-Disease | rs1803027 | - | - |
P62736 | pleiotropic | VAR_064516 | p.Arg179His | Disease | - | - | Moyamoya disease 5 (MYMY5) [MIM:614042] Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834] |
P62736 | pleiotropic | VAR_045920 | p.Arg258Cys | Disease | - | - | Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] |
P60709 | pleiotropic | VAR_067812 | p.Arg196Cys | Disease | rs281875333 | - | Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] |
P60709 | pleiotropic | VAR_048185 | p.Pro243Leu | Non-Disease | rs11546899 | - | - |
P60709 | pleiotropic | VAR_030026 | p.Arg183Trp | Disease | - | - | Dystonia, juvenile-onset (DYTJ) [MIM:607371] |
P60709 | pleiotropic | VAR_067811 | p.Leu65Val | Disease | rs281875332 | - | Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] |
P60709 | pleiotropic | VAR_067810 | p.Asn12Asp | Disease | rs281875331 | - | Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] |
P60709 | pleiotropic | VAR_067813 | p.Arg196His | Disease | rs281875334 | - | Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] |
P68032 | pleiotropic | VAR_045925 | p.Arg97Cys | Disease | - | - | Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] |
P68032 | pleiotropic | VAR_012857 | p.Glu101Lys | Disease | - | - | Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] |
P68032 | pleiotropic | VAR_012862 | p.Glu363Gly | Disease | - | - | Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424] |
P68032 | pleiotropic | VAR_012859 | p.Ala297Ser | Disease | - | - | Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] |
P68032 | pleiotropic | VAR_012861 | p.Ala333Pro | Disease | - | - | Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] |
P68032 | pleiotropic | VAR_046502 | p.Met125Val | Disease | - | - | Atrial septal defect 5 (ASD5) [MIM:612794] |
P68032 | pleiotropic | VAR_012858 | p.Pro166Ala | Disease | - | - | Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] |
P68032 | pleiotropic | VAR_046504 | p.Met307Leu | Disease | - | - | Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] |
P68032 | pleiotropic | VAR_012860 | p.Arg314His | Disease | - | - | Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424] |
P68032 | pleiotropic | VAR_046503 | p.Tyr168Cys | Disease | - | - | Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] |
P68032 | pleiotropic | VAR_045924 | p.His90Tyr | Disease | - | - | Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] |
P63261 | pleiotropic | VAR_032438 | p.Pro332Ala | Disease | - | - | Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] |
P63261 | pleiotropic | VAR_067816 | p.Ser155Phe | Disease | rs281875326 | - | Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] |
P63261 | pleiotropic | VAR_032437 | p.Thr278Ile | Disease | rs28999112 | - | Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] |
P63261 | pleiotropic | VAR_055482 | p.Pro243Leu | Non-Disease | rs11546899 | - | - |
P63261 | pleiotropic | VAR_032434 | p.Thr89Ile | Disease | rs28999111 | - | Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] |
P63261 | pleiotropic | VAR_067824 | p.Lys118Asn | Disease | rs267606630 | - | Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] |
P63261 | pleiotropic | VAR_067825 | p.Ile122Val | Disease | rs281875330 | - | Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] |
P63261 | pleiotropic | VAR_048186 | p.Thr160Ile | Non-Disease | rs11549206 | - | - |
P63261 | pleiotropic | VAR_067819 | p.Arg256Trp | Disease | rs281875329 | - | Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] |
P63261 | pleiotropic | VAR_067826 | p.Glu241Lys | Disease | rs267606631 | - | Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] |
P63261 | pleiotropic | VAR_067815 | p.Ala135Val | Disease | rs11549190 | - | Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] |
P63261 | pleiotropic | VAR_067818 | p.Arg254Trp | Disease | rs281875328 | - | Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] |
P63261 | pleiotropic | VAR_032439 | p.Val370Ala | Disease | - | - | Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] |