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 194 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
O14896 | pleiotropic | VAR_014963 | p.Val18Met | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014964 | p.Pro39Ala | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_030049 | p.Arg45Gln | Disease | rs121434229 | 0.0002 | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014967 | p.Lys66Thr | Disease | - | - | Popliteal pterygium syndrome (PPS) [MIM:119500] |
O14896 | pleiotropic | VAR_014974 | p.Lys89Glu | Disease | - | - | Popliteal pterygium syndrome (PPS) [MIM:119500] |
O14896 | pleiotropic | VAR_014990 | p.Lys388Glu | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_064476 | p.Ser424Leu | Disease | - | - | Popliteal pterygium syndrome (PPS) [MIM:119500] |
O14896 | pleiotropic | VAR_014975 | p.Ser90Gly | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_030046 | p.Arg6Cys | Disease | rs28942094 | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014977 | p.Arg250Gln | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_030054 | p.Glu349Val | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014972 | p.Arg84His | Disease | - | - | Popliteal pterygium syndrome (PPS) [MIM:119500] |
O14896 | pleiotropic | VAR_030047 | p.Ala16Val | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014981 | p.Leu294Pro | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014989 | p.Cys374Trp | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014961 | p.Ala2Val | Disease | rs28942093 | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014978 | p.Gln273Arg | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014985 | p.Gly325Glu | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014982 | p.Val297Ile | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014965 | p.Trp60Gly | Disease | - | - | Popliteal pterygium syndrome (PPS) [MIM:119500] |
O14896 | pleiotropic | VAR_014991 | p.Asp430Asn | Disease | - | - | Popliteal pterygium syndrome (PPS) [MIM:119500] |
O14896 | pleiotropic | VAR_014968 | p.Gly70Arg | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_030055 | p.Pro396Ser | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014966 | p.Ala61Gly | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_030051 | p.Arg84Gly | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_064475 | p.Arg84Leu | Disease | - | - | Popliteal pterygium syndrome (PPS) [MIM:119500] |
O14896 | pleiotropic | VAR_030048 | p.Leu22Pro | Disease | - | - | Popliteal pterygium syndrome (PPS) [MIM:119500] Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_030053 | p.Leu251Pro | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014986 | p.Leu345Pro | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_014984 | p.Val321Met | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
O14896 | pleiotropic | VAR_030052 | p.Thr100Ala | Disease | - | - | Van der Woude syndrome 1 (VWS1) [MIM:119300] |
P35568 | non-pleiotropic | VAR_005299 | p.Ala512Pro | Non-Disease | rs1801276 | 0.0073 | - |
P35568 | non-pleiotropic | VAR_014853 | p.Pro158Arg | Non-Disease | rs1801108 | - | - |
P35568 | non-pleiotropic | VAR_005303 | p.Cys1095Tyr | Disease | - | - | Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] |
P35568 | non-pleiotropic | VAR_005302 | p.Ser1043Tyr | Disease | - | - | Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] |
P35568 | non-pleiotropic | VAR_005300 | p.Gly971Arg | Non-Disease | rs1801278 | 0.0537 | - |
P35568 | non-pleiotropic | VAR_014854 | p.Met209Thr | Non-Disease | rs1801118 | 0.0005 | - |
P35568 | non-pleiotropic | VAR_021837 | p.Asp1137Asn | Non-Disease | rs3731594 | 0.0138 | - |
P35568 | non-pleiotropic | VAR_014856 | p.Ser892Gly | Non-Disease | rs1801277 | 0.0014 | - |
P35568 | non-pleiotropic | VAR_014855 | p.Ser809Phe | Non-Disease | rs1801120 | - | - |
P78411 | non-pleiotropic | VAR_068484 | p.Asn166Lys | Disease | - | - | Hamamy syndrome (HMMS) [MIM:611174] |
P78411 | non-pleiotropic | VAR_068483 | p.Ala150Pro | Disease | - | - | Hamamy syndrome (HMMS) [MIM:611174] |
A4D126 | non-pleiotropic | VAR_068101 | p.Ala122Pro | Disease | - | - | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643] |
A4D126 | non-pleiotropic | VAR_069743 | p.Tyr226His | Disease | - | - | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643] |
A4D126 | non-pleiotropic | VAR_068102 | p.Arg126His | Disease | - | - | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643] |
A4D126 | non-pleiotropic | VAR_069742 | p.Met213Arg | Disease | - | - | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643] |
A4D126 | non-pleiotropic | VAR_069741 | p.Asp156Asn | Disease | - | - | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643] |
A4D126 | non-pleiotropic | VAR_069744 | p.Thr238Ile | Disease | - | - | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643] |
A4D126 | non-pleiotropic | VAR_068103 | p.Ala216Asp | Disease | - | - | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643] |
P26006 | non-pleiotropic | VAR_055968 | p.Ala719Thr | Non-Disease | rs2230392 | 0.1313 | - |