Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

Refine Search

UniProtID
Disease name
Protein type
Variant type
Use data from

Show per page.

Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

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 -