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 192 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P01308 | pleiotropic | VAR_063726 | p.Gly32Ser | Disease | rs80356664 | - | Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
P01308 | pleiotropic | VAR_063731 | p.Phe48Cys | Disease | rs80356668 | - | Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
P01308 | pleiotropic | VAR_063737 | p.Cys96Ser | Disease | rs80356671 | - | Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
P01308 | pleiotropic | VAR_063725 | p.Gly32Arg | Disease | rs80356664 | - | Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
P01308 | pleiotropic | VAR_063721 | p.Arg6Cys | Disease | rs121908278 | - | Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370] |
P01308 | pleiotropic | VAR_063729 | p.Arg46Gln | Disease | rs121908260 | - | Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370] |
P01308 | pleiotropic | VAR_063740 | p.Tyr103Cys | Disease | rs121908277 | - | Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
P01308 | pleiotropic | VAR_063735 | p.Arg89Cys | Disease | rs80356669 | - | Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
P01308 | pleiotropic | VAR_063739 | p.Ser101Cys | Disease | rs121908276 | - | Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
P01308 | pleiotropic | VAR_063727 | p.Leu35Pro | Disease | rs121908273 | - | Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
P51460 | non-pleiotropic | VAR_013237 | p.Arg102His | Non-Disease | - | - | - |
P51460 | non-pleiotropic | VAR_013232 | p.Val43Leu | Non-Disease | - | - | - |
P51460 | non-pleiotropic | VAR_013236 | p.Arg102Cys | Disease | - | - | Cryptorchidism (CRYPTO) [MIM:219050] |
P51460 | non-pleiotropic | VAR_013231 | p.Ala24Gly | Non-Disease | rs186828508 | 0.0009 | - |
P51460 | non-pleiotropic | VAR_013234 | p.Thr60Ala | Non-Disease | rs6523 | 0.3118 | - |
P51460 | non-pleiotropic | VAR_013233 | p.Pro49Ser | Non-Disease | - | - | - |
P51460 | non-pleiotropic | VAR_017122 | p.Asn110Lys | Disease | - | - | Cryptorchidism (CRYPTO) [MIM:219050] |
P51460 | non-pleiotropic | VAR_013235 | p.Pro93Leu | Disease | rs104894697 | 0.0002 | Cryptorchidism (CRYPTO) [MIM:219050] |
P06213 | pleiotropic | VAR_015921 | p.Pro997Thr | Disease | - | - | Rabson-Mendenhall syndrome (RMS) [MIM:262190] |
P06213 | pleiotropic | VAR_004087 | p.Phe409Val | Disease | - | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_015934 | p.Arg1378Gln | Disease | rs52826008 | 0.001 | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_015922 | p.Ile1023Phe | Non-Disease | - | - | - |
P06213 | pleiotropic | VAR_004090 | p.Arg762Ser | Disease | - | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_015925 | p.Arg1119Trp | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_041430 | p.Gln695Arg | Non-Disease | rs55906835 | - | - |
P06213 | pleiotropic | VAR_004099 | p.Pro1205Leu | Disease | - | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_031519 | p.Arg279His | Disease | - | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_058395 | p.Ala2Gly | Non-Disease | rs7508518 | 0.1102 | - |
P06213 | pleiotropic | VAR_041433 | p.Thr1282Ala | Non-Disease | rs55875349 | - | - |
P06213 | pleiotropic | VAR_015931 | p.Glu1206Asp | Disease | - | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_004088 | p.Lys487Glu | Disease | rs28933083 | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_041431 | p.Gly811Ser | Non-Disease | rs35045353 | - | - |
P06213 | pleiotropic | VAR_004093 | p.Gly1035Val | Disease | - | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_004098 | p.Arg1191Gln | Disease | - | - | Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] |
P06213 | pleiotropic | VAR_015926 | p.Ile1143Thr | Disease | - | - | Rabson-Mendenhall syndrome (RMS) [MIM:262190] |
P06213 | pleiotropic | VAR_004086 | p.Gly393Arg | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_004101 | p.Trp1227Ser | Disease | - | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_015914 | p.Ser350Leu | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] Rabson-Mendenhall syndrome (RMS) [MIM:262190] |
P06213 | pleiotropic | VAR_004092 | p.Arg1020Gln | Disease | - | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_055986 | p.Pro830Leu | Non-Disease | rs2162771 | - | - |
P06213 | pleiotropic | VAR_015920 | p.Thr937Met | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_015923 | p.Ala1055Val | Disease | - | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_015929 | p.Arg1201Gln | Disease | rs28933086 | - | Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_015911 | p.Cys280Tyr | Disease | - | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_015915 | p.Ile448Thr | Non-Disease | rs1051691 | - | - |
P06213 | pleiotropic | VAR_015909 | p.Ala119Val | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_004080 | p.Val55Ala | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_015540 | p.Arg279Cys | Disease | - | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |
P06213 | pleiotropic | VAR_015539 | p.Ile146Met | Disease | - | - | Leprechaunism (LEPRCH) [MIM:246200] |
P06213 | pleiotropic | VAR_015908 | p.Leu89Pro | Disease | - | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] |