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 2 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P21439 | pleiotropic | VAR_043087 | p.Thr424Ala | Disease | - | - | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] |
P21439 | pleiotropic | VAR_043089 | p.Glu450Gly | Non-Disease | - | - | - |
P21439 | pleiotropic | VAR_043083 | p.Met301Thr | Disease | - | - | Gallbladder disease 1 (GBD1) [MIM:600803] |
P21439 | pleiotropic | VAR_023501 | p.Thr175Ala | Non-Disease | rs58238559 | 0.006 | - |
P21439 | pleiotropic | VAR_043090 | p.Glu528Asp | Non-Disease | rs8187797 | 0.0096 | - |
P21439 | pleiotropic | VAR_043092 | p.Ile541Phe | Disease | - | - | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] |
O75027 | non-pleiotropic | VAR_067354 | p.Glu208Asp | Disease | - | - | Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310] |
O75027 | non-pleiotropic | VAR_009156 | p.Ile400Met | Disease | - | - | Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310] |
O75027 | non-pleiotropic | VAR_012640 | p.Glu433Lys | Disease | - | - | Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310] |
O75027 | non-pleiotropic | VAR_022872 | p.Arg315Gly | Non-Disease | - | - | - |
O75027 | non-pleiotropic | VAR_022873 | p.Phe346Ile | Non-Disease | - | - | - |
O75027 | non-pleiotropic | VAR_037972 | p.Val581Ala | Non-Disease | rs1340989 | 0.0837 | - |
O75027 | non-pleiotropic | VAR_022874 | p.Val411Leu | Disease | - | - | Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310] |
O75027 | non-pleiotropic | VAR_055471 | p.Ala580Val | Non-Disease | rs1340989 | 0.0532 | - |
Q92887 | non-pleiotropic | VAR_013327 | p.Arg1150His | Disease | - | - | Dubin-Johnson syndrome (DJS) [MIM:237500] |
Q92887 | non-pleiotropic | VAR_013324 | p.Ser281Asn | Non-Disease | rs56131651 | 0.0073 | - |
Q92887 | non-pleiotropic | VAR_029113 | p.Met246Leu | Non-Disease | rs17222744 | 0.0005 | - |
Q92887 | non-pleiotropic | VAR_013326 | p.Ser789Phe | Non-Disease | rs56220353 | 0.0032 | - |
Q92887 | non-pleiotropic | VAR_029115 | p.Lys495Glu | Non-Disease | rs17222561 | 0.0023 | - |
Q92887 | non-pleiotropic | VAR_020231 | p.Arg1181Leu | Non-Disease | rs8187692 | 0.0257 | - |
Q92887 | non-pleiotropic | VAR_013325 | p.Val417Ile | Non-Disease | rs2273697 | 0.1736 | - |
Q92887 | non-pleiotropic | VAR_020232 | p.Val1188Glu | Non-Disease | rs17222723 | 0.0427 | - |
Q92887 | non-pleiotropic | VAR_000099 | p.Arg768Trp | Disease | rs56199535 | 0.0002 | Dubin-Johnson syndrome (DJS) [MIM:237500] |
Q92887 | non-pleiotropic | VAR_020230 | p.Ile1036Thr | Non-Disease | rs45441199 | 0.0028 | - |
Q92887 | non-pleiotropic | VAR_029117 | p.Ile982Val | Non-Disease | rs17222554 | 0.0005 | - |
Q92887 | non-pleiotropic | VAR_010756 | p.Gln1382Arg | Disease | - | - | Dubin-Johnson syndrome (DJS) [MIM:237500] |
Q92887 | non-pleiotropic | VAR_020229 | p.Leu849Arg | Non-Disease | rs17222617 | 0.0119 | - |
Q92887 | non-pleiotropic | VAR_029116 | p.Phe562Leu | Non-Disease | rs17216233 | - | - |
Q92887 | non-pleiotropic | VAR_070609 | p.Arg1174His | Non-Disease | rs139188247 | - | - |
Q92887 | non-pleiotropic | VAR_013328 | p.Ile1173Phe | Disease | - | - | Dubin-Johnson syndrome (DJS) [MIM:237500] |
Q92887 | non-pleiotropic | VAR_020226 | p.Asp333Gly | Non-Disease | rs17222674 | 0.0 | - |
Q92887 | non-pleiotropic | VAR_020234 | p.Cys1515Tyr | Non-Disease | rs8187710 | 0.0698 | - |
Q92887 | non-pleiotropic | VAR_013330 | p.Ala1450Thr | Non-Disease | rs56296335 | 0.0002 | - |
Q92887 | non-pleiotropic | VAR_020233 | p.Pro1291Leu | Non-Disease | rs17216317 | 0.0069 | - |
Q92887 | non-pleiotropic | VAR_029118 | p.Asn1063Ser | Non-Disease | rs17222540 | 0.0005 | - |
Q92887 | non-pleiotropic | VAR_020227 | p.Arg353His | Non-Disease | rs7080681 | 0.0129 | - |
Q92887 | non-pleiotropic | VAR_020228 | p.Ile670Thr | Non-Disease | rs17222632 | 0.0046 | - |
Q92887 | non-pleiotropic | VAR_024360 | p.Thr1273Ala | Non-Disease | rs8187699 | 0.0028 | - |
Q92887 | non-pleiotropic | VAR_047152 | p.Tyr39Phe | Non-Disease | rs927344 | 0.0041 | - |
O95255 | pleiotropic | VAR_067854 | p.Cys440Gly | Disease | rs72653766 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_011495 | p.Arg1314Trp | Disease | rs63750759 | 0.0002 | Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473] Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067867 | p.Arg724Lys | Non-Disease | rs58073789 | 0.0119 | - |
O95255 | pleiotropic | VAR_067849 | p.Arg382Trp | Disease | rs72653761 | 0.0006 | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067871 | p.Met751Lys | Disease | rs72653786 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013368 | p.Lys281Glu | Non-Disease | rs4780606 | - | - |
O95255 | pleiotropic | VAR_013382 | p.Gly1203Asp | Disease | rs63750607 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013370 | p.Thr364Arg | Disease | - | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067865 | p.Gln698Pro | Disease | rs72653783 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067870 | p.Ile742Val | Non-Disease | rs59593133 | 0.0197 | - |
O95255 | pleiotropic | VAR_067856 | p.Leu495His | Disease | rs72653769 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |