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 193 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P06213 | pleiotropic | VAR_004089 | p.Asn489Ser | Disease | rs28933085 | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_004091 | p.Val1012Met | Non-Disease | rs1799816 | 0.0037 | - |
P06213 | pleiotropic | VAR_015907 | p.Asp86Gly | Disease | - | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_004079 | p.Asn42Lys | Disease | - | - | Rabson-Mendenhall syndrome (RMS) [MIM:262190] |
P06213 | pleiotropic | VAR_015927 | p.Arg1158Gln | Disease | - | - | Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] |
P06213 | pleiotropic | VAR_004094 | p.Ala1075Asp | Disease | - | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_004082 | p.Arg113Pro | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_015928 | p.Arg1158Trp | Disease | - | - | Rabson-Mendenhall syndrome (RMS) [MIM:262190] |
P06213 | pleiotropic | VAR_004100 | p.Trp1220Leu | Disease | rs52800171 | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_004095 | p.Ala1161Thr | Disease | rs28933084 | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_031521 | p.Asn458Asp | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_015910 | p.Val167Leu | Disease | - | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_004084 | p.His236Arg | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_058396 | p.Tyr171His | Non-Disease | rs1051692 | - | - |
P06213 | pleiotropic | VAR_015912 | p.Cys301Tyr | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_015933 | p.Tyr1361Cys | Non-Disease | rs13306449 | 0.0005 | - |
P06213 | pleiotropic | VAR_004096 | p.Ala1162Glu | Disease | - | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_004085 | p.Leu260Pro | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_004081 | p.Gly58Arg | Disease | rs52836744 | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_015917 | p.Thr858Ala | Disease | rs182552223 | 0.0004 | Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] |
P06213 | pleiotropic | VAR_031518 | p.Leu120Gln | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_015932 | p.Glu1206Lys | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_015916 | p.Gln492Lys | Non-Disease | rs1131851 | - | - |
P06213 | pleiotropic | VAR_015919 | p.Arg926Trp | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_031520 | p.Gly386Ser | Disease | - | - | Rabson-Mendenhall syndrome (RMS) [MIM:262190] |
P06213 | pleiotropic | VAR_015930 | p.Arg1201Trp | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] Rabson-Mendenhall syndrome (RMS) [MIM:262190] |
P06213 | pleiotropic | VAR_041432 | p.Leu1065Val | Non-Disease | rs56395521 | 0.0002 | - |
P06213 | pleiotropic | VAR_015542 | p.Trp439Ser | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_015918 | p.Ile925Thr | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] |
Q9Y283 | non-pleiotropic | VAR_022823 | p.Leu493Ser | Disease | - | - | Nephronophthisis 2 (NPHP2) [MIM:602088] |
Q9Y283 | non-pleiotropic | VAR_044119 | p.Ser242Leu | Non-Disease | rs2491097 | 0.0046 | - |
Q9Y283 | non-pleiotropic | VAR_022822 | p.Pro482Arg | Disease | - | - | Nephronophthisis 2 (NPHP2) [MIM:602088] |
Q9Y283 | non-pleiotropic | VAR_044120 | p.Ser888Arg | Non-Disease | rs1052867 | - | - |
Q5JU85 | non-pleiotropic | VAR_063742 | p.Arg349Cys | Disease | - | - | Mental retardation, X-linked 1 (MRX1) [MIM:309530] |
Q5JU85 | non-pleiotropic | VAR_063743 | p.Arg748Gln | Disease | - | - | Mental retardation, X-linked 1 (MRX1) [MIM:309530] |
Q5JU85 | non-pleiotropic | VAR_063744 | p.Gln791Pro | Disease | - | - | Mental retardation, X-linked 1 (MRX1) [MIM:309530] |
Q5JU85 | non-pleiotropic | VAR_063745 | p.Arg853Trp | Disease | - | - | Mental retardation, X-linked 1 (MRX1) [MIM:309530] |
O14896 | pleiotropic | VAR_014979 | p.Val274Ile | Non-Disease | rs2235371 | 0.1377 | - |
O14896 | pleiotropic | VAR_014983 | p.Lys320Glu | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014976 | p.Asp98His | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014971 | p.Arg84Cys | Disease | - | - | Popliteal pterygium syndrome (PPS) [MIM:119500] |
O14896 | pleiotropic | VAR_059080 | p.Arg339Ile | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014969 | p.Pro76Ser | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014970 | p.Gln82Lys | Disease | - | - | Popliteal pterygium syndrome (PPS) [MIM:119500] |
O14896 | pleiotropic | VAR_030050 | p.Thr64Ile | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_030056 | p.Arg400Trp | Disease | rs28942095 | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014988 | p.Phe369Ser | Disease | - | - | Non-syndromic orofacial cleft 6 (OFC6) [MIM:608864] Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014973 | p.Asn88His | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014987 | p.Cys347Phe | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014962 | p.Val18Ala | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |