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 42 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P35670 | non-pleiotropic | VAR_010015 | p.Arg1038Lys | Disease | rs59959366 | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_067335 | p.Leu549Pro | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_044459 | p.Ser653Tyr | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_009016 | p.Pro1052Leu | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000779 | p.Asp1222Tyr | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_044478 | p.Gly1176Glu | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000719 | p.Gly710Ser | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_009028 | p.Gly1266Arg | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_023014 | p.Pro690Leu | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_058931 | p.Asp1164Asn | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000748 | p.Thr977Met | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_009031 | p.Ser1363Phe | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_009012 | p.Cys985Tyr | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000717 | p.Leu708Pro | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000755 | p.Leu1043Pro | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_044481 | p.Asp1222Asn | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_044488 | p.Tyr1331Ser | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_023011 | p.Asn41Ser | Disease | - | - | Wilson disease (WD) [MIM:277900] |
Q9NTI2 | non-pleiotropic | VAR_069928 | p.Ile336Met | Disease | - | - | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CMARQ4) [MIM:615268] |
Q9NTI2 | non-pleiotropic | VAR_055543 | p.Ala1029Thr | Non-Disease | rs2296242 | 0.0006 | - |
O43520 | pleiotropic | VAR_043062 | p.Ser580Asn | Non-Disease | rs33963153 | 0.0161 | - |
O43520 | pleiotropic | VAR_043059 | p.Tyr500His | Disease | - | - | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
O43520 | pleiotropic | VAR_043053 | p.Ser403Tyr | Disease | - | - | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
O43520 | pleiotropic | VAR_008813 | p.Gly892Arg | Disease | - | - | Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
O43520 | pleiotropic | VAR_071046 | p.Ser1012Ile | Disease | - | - | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
O43520 | pleiotropic | VAR_043073 | p.Gly1040Arg | Disease | - | - | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
O43520 | pleiotropic | VAR_071045 | p.Pro209Thr | Disease | - | - | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
O43520 | pleiotropic | VAR_043046 | p.Leu127Pro | Disease | - | - | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
O43520 | pleiotropic | VAR_043056 | p.Ser453Tyr | Disease | - | - | Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] |
O43520 | pleiotropic | VAR_043066 | p.Met674Thr | Non-Disease | rs35470719 | 0.0142 | - |
O43520 | pleiotropic | VAR_029273 | p.Arg952Gln | Non-Disease | rs12968116 | 0.056 | - |
O43520 | pleiotropic | VAR_043055 | p.Glu429Ala | Non-Disease | rs34018205 | 0.0069 | - |
O43520 | pleiotropic | VAR_029271 | p.His78Gln | Non-Disease | rs3745079 | 0.0147 | - |
O43520 | pleiotropic | VAR_043072 | p.Arg867Cys | Disease | - | - | Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480] |
O43520 | pleiotropic | VAR_008812 | p.Ile661Thr | Disease | rs28939686 | - | Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
O43520 | pleiotropic | VAR_043047 | p.Lys203Glu | Disease | rs56355310 | 0.0006 | Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480] |
O43520 | pleiotropic | VAR_043044 | p.Asn45Thr | Disease | rs146599962 | 0.0016 | Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480] |
O43520 | pleiotropic | VAR_043065 | p.Arg628Trp | Disease | - | - | Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] |
O43520 | pleiotropic | VAR_043051 | p.Arg384His | Non-Disease | rs2271260 | 0.0014 | - |
O43520 | pleiotropic | VAR_008810 | p.Gly308Val | Disease | rs28939685 | - | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
O43520 | pleiotropic | VAR_043057 | p.Asp454Gly | Disease | - | - | Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] |
O43520 | pleiotropic | VAR_055045 | p.Ala1152Thr | Non-Disease | rs222581 | 0.0005 | - |
O43520 | pleiotropic | VAR_043061 | p.His535Leu | Disease | - | - | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
O43520 | pleiotropic | VAR_043048 | p.Phe305Ile | Non-Disease | rs150860808 | 0.0014 | - |
O43520 | pleiotropic | VAR_008809 | p.Leu288Ser | Disease | - | - | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
O43520 | pleiotropic | VAR_043064 | p.Arg600Trp | Disease | - | - | Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] |
O43520 | pleiotropic | VAR_043069 | p.Gly733Arg | Disease | - | - | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
O43520 | pleiotropic | VAR_043049 | p.Gly308Asp | Disease | rs28939685 | - | Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] |
O43520 | pleiotropic | VAR_043063 | p.Arg600Gln | Disease | - | - | Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] |
O43520 | pleiotropic | VAR_043052 | p.Ile393Val | Non-Disease | rs34315917 | 0.006 | - |