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 6 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q09428 | pleiotropic | VAR_008646 | p.Phe591Leu | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_008639 | p.Arg74Gln | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_031383 | p.Ala1457Thr | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_031374 | p.Asn1295Lys | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_031379 | p.Ser1386Phe | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_008658 | p.Val1572Ile | Non-Disease | rs8192690 | 0.0317 | - |
Q09428 | pleiotropic | VAR_015009 | p.Glu1506Lys | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_031357 | p.Met233Arg | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_031368 | p.Arg841Gly | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_008647 | p.Asp810Asn | Non-Disease | - | - | - |
Q09428 | pleiotropic | VAR_008650 | p.Arg1214Gln | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_008643 | p.Arg275Gln | Non-Disease | - | - | - |
Q09428 | pleiotropic | VAR_031361 | p.Glu501Lys | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_031359 | p.Cys418Arg | Disease | rs67254669 | 0.0008 | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_008645 | p.Val560Met | Non-Disease | rs4148619 | 0.0046 | - |
Q09428 | pleiotropic | VAR_031370 | p.Ser956Phe | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_029778 | p.Phe132Leu | Disease | - | - | Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
Q09428 | pleiotropic | VAR_008648 | p.Arg834Cys | Non-Disease | - | - | - |
Q09428 | pleiotropic | VAR_029783 | p.Arg1182Gln | Disease | - | - | Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374] |
Q09428 | pleiotropic | VAR_031364 | p.Pro551Arg | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_031351 | p.Phe27Ser | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_015007 | p.Val1360Met | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_008640 | p.His125Gln | Disease | rs60637558 | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_029785 | p.Arg1379Cys | Disease | - | - | Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374] |
O60706 | pleiotropic | VAR_068490 | p.Ser1020Pro | Disease | - | - | Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] |
O60706 | pleiotropic | VAR_068489 | p.Ala478Val | Disease | - | - | Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] |
O60706 | pleiotropic | VAR_068486 | p.Asp207Glu | Disease | - | - | Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] |
O60706 | pleiotropic | VAR_068491 | p.Phe1039Ser | Disease | - | - | Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] |
O60706 | pleiotropic | VAR_048143 | p.Pro1108Ser | Non-Disease | rs35404804 | 0.0124 | - |
O60706 | pleiotropic | VAR_068492 | p.Cys1043Tyr | Disease | - | - | Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] |
O60706 | pleiotropic | VAR_068495 | p.Arg1116His | Disease | - | - | Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] |
O60706 | pleiotropic | VAR_068488 | p.Pro432Leu | Disease | - | - | Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] |
O60706 | pleiotropic | VAR_068494 | p.Arg1116Cys | Disease | - | - | Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] |
O60706 | pleiotropic | VAR_068493 | p.Ser1054Tyr | Disease | - | - | Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] |
O60706 | pleiotropic | VAR_018483 | p.Ala1513Thr | Disease | - | - | Cardiomyopathy, dilated 1O (CMD1O) [MIM:608569] |
O60706 | pleiotropic | VAR_068487 | p.Gly380Cys | Disease | - | - | Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] |
O60706 | pleiotropic | VAR_068497 | p.Arg1154Trp | Disease | - | - | Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] |
O60706 | pleiotropic | VAR_066210 | p.Thr1547Ile | Disease | - | - | Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050] |
O60706 | pleiotropic | VAR_068485 | p.His60Tyr | Disease | - | - | Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] |
O60706 | pleiotropic | VAR_068496 | p.Arg1154Gln | Disease | - | - | Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] |
O14678 | non-pleiotropic | VAR_069097 | p.Tyr319Cys | Disease | rs201777056 | - | Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857] |
O14678 | non-pleiotropic | VAR_048134 | p.Val172Ile | Non-Disease | rs34992370 | 0.0606 | - |
O14678 | non-pleiotropic | VAR_020778 | p.Ala304Thr | Non-Disease | rs4148077 | 0.27 | - |
O14678 | non-pleiotropic | VAR_020222 | p.Glu368Lys | Non-Disease | rs3742801 | 0.27 | - |
O14678 | non-pleiotropic | VAR_048135 | p.Thr350Arg | Non-Disease | rs35073715 | 0.0142 | - |
Q9H222 | non-pleiotropic | VAR_033457 | p.Thr517Ser | Non-Disease | rs17031672 | 0.0073 | - |
Q9H222 | non-pleiotropic | VAR_020784 | p.Met622Val | Non-Disease | rs140374206 | 0.0032 | - |
Q9H222 | non-pleiotropic | VAR_020783 | p.Cys600Tyr | Non-Disease | - | - | - |
Q9H222 | non-pleiotropic | VAR_012244 | p.Glu146Gln | Disease | - | - | Sitosterolemia (STSL) [MIM:210250] |
Q9H222 | non-pleiotropic | VAR_012249 | p.Gln604Glu | Non-Disease | rs6720173 | 0.2112 | - |