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 275 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q99453 | non-pleiotropic | VAR_046901 | p.Gln143Arg | Disease | - | - | Congenital central hypoventilation syndrome (CCHS) [MIM:209880] |
O14832 | non-pleiotropic | VAR_050528 | p.Gly215Ser | Non-Disease | rs7901902 | 0.0041 | - |
O14832 | non-pleiotropic | VAR_017485 | p.Asp177Gly | Disease | - | - | Refsum disease (RD) [MIM:266500] |
O14832 | non-pleiotropic | VAR_017484 | p.Gln176Lys | Disease | rs28939672 | - | Refsum disease (RD) [MIM:266500] |
O14832 | non-pleiotropic | VAR_017492 | p.Phe257Ser | Disease | - | - | Refsum disease (RD) [MIM:266500] |
O14832 | non-pleiotropic | VAR_005525 | p.Asn269His | Disease | - | - | Refsum disease (RD) [MIM:266500] |
O14832 | non-pleiotropic | VAR_018619 | p.Asn83Tyr | Disease | - | - | Refsum disease (RD) [MIM:266500] |
O14832 | non-pleiotropic | VAR_005526 | p.Arg275Trp | Disease | rs28939671 | - | Refsum disease (RD) [MIM:266500] |
O14832 | non-pleiotropic | VAR_017493 | p.Arg275Gln | Disease | rs28939674 | - | Refsum disease (RD) [MIM:266500] |
O14832 | non-pleiotropic | VAR_017486 | p.Trp193Arg | Disease | - | - | Refsum disease (RD) [MIM:266500] |
O14832 | non-pleiotropic | VAR_017487 | p.Glu197Gln | Disease | - | - | Refsum disease (RD) [MIM:266500] |
O14832 | non-pleiotropic | VAR_018631 | p.His175Arg | Disease | - | - | Refsum disease (RD) [MIM:266500] |
O14832 | non-pleiotropic | VAR_017483 | p.Pro173Ser | Disease | - | - | Refsum disease (RD) [MIM:266500] |
O14832 | non-pleiotropic | VAR_017490 | p.His220Tyr | Disease | - | - | Refsum disease (RD) [MIM:266500] |
O14832 | non-pleiotropic | VAR_017489 | p.Gly204Ser | Disease | rs28939673 | - | Refsum disease (RD) [MIM:266500] |
O14832 | non-pleiotropic | VAR_017488 | p.Ile199Phe | Disease | - | - | Refsum disease (RD) [MIM:266500] |
O14832 | non-pleiotropic | VAR_017491 | p.Arg245Gln | Disease | rs62619919 | 0.0054 | Refsum disease (RD) [MIM:266500] |
Q8IUZ5 | non-pleiotropic | VAR_069544 | p.Glu437Val | Disease | rs142181517 | 0.0008 | Phosphohydroxylysinuria (PHLU) [MIM:615011] |
Q8IUZ5 | non-pleiotropic | VAR_048233 | p.His126Arg | Non-Disease | rs7707147 | 0.0519 | - |
Q8IUZ5 | non-pleiotropic | VAR_069543 | p.Gly240Arg | Disease | rs201105857 | - | Phosphohydroxylysinuria (PHLU) [MIM:615011] |
Q92508 | non-pleiotropic | VAR_069834 | p.Arg2488Gln | Disease | - | - | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380] |
Q92508 | non-pleiotropic | VAR_069829 | p.Ala2020Val | Disease | - | - | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380] |
Q92508 | non-pleiotropic | VAR_069827 | p.Ala2003Asp | Disease | - | - | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380] |
Q92508 | non-pleiotropic | VAR_069824 | p.Arg808Gln | Disease | - | - | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380] |
Q92508 | non-pleiotropic | VAR_069830 | p.Thr2127Met | Disease | - | - | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380] |
Q92508 | non-pleiotropic | VAR_069828 | p.Ala2020Thr | Disease | - | - | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380] |
Q92508 | non-pleiotropic | VAR_069822 | p.Gly718Ser | Disease | - | - | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380] |
Q92508 | non-pleiotropic | VAR_069825 | p.Ser1117Leu | Disease | - | - | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380] |
Q92508 | non-pleiotropic | VAR_069833 | p.Arg2456His | Disease | - | - | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380] |
Q92508 | non-pleiotropic | VAR_069826 | p.Arg1358Pro | Disease | - | - | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380] |
Q92508 | non-pleiotropic | VAR_069832 | p.Met2225Arg | Disease | - | - | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380] |
Q92508 | non-pleiotropic | VAR_069823 | p.Gly782Ser | Disease | - | - | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380] |
Q9H5I5 | non-pleiotropic | VAR_071039 | p.Val1354Ile | Non-Disease | rs7234309 | 0.3439 | - |
Q9H5I5 | non-pleiotropic | VAR_033925 | p.Val2463Ile | Non-Disease | rs3748428 | 0.1419 | - |
Q9H5I5 | non-pleiotropic | VAR_070938 | p.Ile802Phe | Disease | - | - | Arthrogryposis, distal, 5 (DA5) [MIM:108145] |
P37287 | pleiotropic | VAR_005532 | p.Asn297Asp | Disease | - | - | Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] |
P37287 | pleiotropic | VAR_005531 | p.Ser155Phe | Disease | - | - | Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] |
P37287 | pleiotropic | VAR_015440 | p.His128Arg | Disease | - | - | Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] |
P37287 | pleiotropic | VAR_071071 | p.Arg119Trp | Disease | - | - | Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868] |
P37287 | pleiotropic | VAR_015439 | p.Gly48Val | Disease | - | - | Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] |
P37287 | pleiotropic | VAR_071070 | p.Pro93Leu | Disease | - | - | Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868] |
P37287 | pleiotropic | VAR_071069 | p.Arg77Leu | Disease | - | - | Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868] |
P37287 | pleiotropic | VAR_015442 | p.Arg19Trp | Disease | rs34422225 | 0.0246 | Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] |
P37287 | pleiotropic | VAR_015438 | p.Gly48Asp | Disease | - | - | Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] |
P37287 | pleiotropic | VAR_015441 | p.Gly239Arg | Disease | - | - | Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] |
P37287 | pleiotropic | VAR_071072 | p.Ile206Phe | Disease | - | - | Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868] |
P37287 | pleiotropic | VAR_015436 | p.Asp40His | Disease | - | - | Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] |
P37287 | pleiotropic | VAR_015437 | p.Gly48Ala | Disease | - | - | Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818] |
Q9Y2B2 | non-pleiotropic | VAR_068221 | p.Leu167Pro | Disease | rs145303331 | 0.0006 | Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome (CHIME) [MIM:280000] |
O95427 | non-pleiotropic | VAR_066402 | p.Arg709Gln | Disease | - | - | Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) [MIM:614080] |