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 17 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
O00116 | non-pleiotropic | VAR_005002 | p.Arg419His | Disease | - | - | Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121] |
O00116 | non-pleiotropic | VAR_025895 | p.Thr309Ile | Disease | - | - | Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121] |
O00116 | non-pleiotropic | VAR_025896 | p.Leu469Pro | Disease | - | - | Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121] |
O00116 | non-pleiotropic | VAR_066930 | p.Glu471Lys | Disease | - | - | Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121] |
O00116 | non-pleiotropic | VAR_066929 | p.Arg182Gln | Disease | - | - | Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121] |
O00468 | non-pleiotropic | VAR_068731 | p.Val984Met | Non-Disease | - | - | - |
O00468 | non-pleiotropic | VAR_068736 | p.Gly1341Arg | Non-Disease | - | - | - |
O00468 | non-pleiotropic | VAR_068733 | p.Thr1118Lys | Non-Disease | rs149159118 | 0.0018 | - |
O00468 | non-pleiotropic | VAR_068735 | p.Pro1240Leu | Non-Disease | rs142620337 | 0.0018 | - |
O00468 | non-pleiotropic | VAR_068728 | p.Ala375Ser | Non-Disease | rs138031468 | 0.0014 | - |
O00468 | non-pleiotropic | VAR_068724 | p.Val23Leu | Non-Disease | - | - | - |
O00468 | non-pleiotropic | VAR_068744 | p.Asp1789Asn | Non-Disease | - | - | - |
O00468 | non-pleiotropic | VAR_068737 | p.Pro1451Leu | Non-Disease | - | - | - |
O00468 | non-pleiotropic | VAR_068740 | p.Arg1671Gln | Non-Disease | - | - | - |
O00468 | non-pleiotropic | VAR_068730 | p.Gln852Arg | Non-Disease | rs9697293 | 0.0335 | - |
O00468 | non-pleiotropic | VAR_068726 | p.Asn105Ile | Non-Disease | - | - | - |
O00468 | non-pleiotropic | VAR_068725 | p.Asp58Asn | Non-Disease | - | - | - |
O00468 | non-pleiotropic | VAR_068745 | p.Gly2045Val | Non-Disease | - | - | - |
O00468 | non-pleiotropic | VAR_048966 | p.Val1666Ile | Non-Disease | rs17160775 | 0.0478 | - |
O00468 | non-pleiotropic | VAR_068739 | p.Gln1565His | Non-Disease | rs199876002 | 0.0037 | - |
O00468 | non-pleiotropic | VAR_068741 | p.Arg1698Pro | Non-Disease | - | - | - |
O00468 | non-pleiotropic | VAR_068734 | p.Gln1135Arg | Non-Disease | rs142416636 | 0.006 | - |
O00468 | non-pleiotropic | VAR_068729 | p.Glu728Val | Non-Disease | rs113288277 | 0.0193 | - |
O00468 | non-pleiotropic | VAR_068727 | p.Thr267Met | Non-Disease | - | - | - |
O00468 | non-pleiotropic | VAR_068742 | p.Gly1709Arg | Disease | - | - | Myasthenia, limb-girdle, familial (LGM) [MIM:254300] |
O00468 | non-pleiotropic | VAR_068732 | p.Leu1088Phe | Non-Disease | rs150132566 | 0.0119 | - |
O00468 | non-pleiotropic | VAR_068743 | p.Arg1734His | Non-Disease | rs145444272 | 0.0028 | - |
O00468 | non-pleiotropic | VAR_069066 | p.Val1727Phe | Disease | - | - | Myasthenia, limb-girdle, familial (LGM) [MIM:254300] |
O00468 | non-pleiotropic | VAR_068738 | p.Ala1514Thr | Non-Disease | rs111818381 | 0.0069 | - |
P21549 | non-pleiotropic | VAR_060562 | p.Cys253Arg | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060560 | p.Arg233Leu | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060559 | p.Ser218Leu | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_000591 | p.Ser187Phe | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_008879 | p.Arg233Cys | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_048236 | p.Asn22Ser | Non-Disease | rs34885252 | 0.0418 | - |
P21549 | non-pleiotropic | VAR_060566 | p.Ser287Thr | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_010973 | p.Asp183Asn | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060570 | p.Val326Ile | Non-Disease | rs115057148 | 0.0023 | - |
P21549 | non-pleiotropic | VAR_060563 | p.Ile279Met | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_008880 | p.Arg233His | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060547 | p.Thr9Asn | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060558 | p.Asp201Glu | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060549 | p.Trp108Arg | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060555 | p.Cys173Tyr | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060572 | p.Gly350Asp | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060550 | p.Ala112Asp | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060565 | p.Ala280Val | Non-Disease | rs73106685 | 0.0073 | - |
P21549 | non-pleiotropic | VAR_000593 | p.Ile340Met | Non-Disease | rs4426527 | 0.1368 | - |
P21549 | non-pleiotropic | VAR_060564 | p.Ile279Thr | Non-Disease | rs140992177 | 0.0087 | - |
P21549 | non-pleiotropic | VAR_060554 | p.Gly161Arg | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |