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.

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UniProtID
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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 13 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P37023 non-pleiotropic VAR_026800 p.Arg374Gln Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026785 p.Gly48Arg Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026799 p.Ala347Pro Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_006211 p.Arg374Trp Disease rs28936401 - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026807 p.Glu407Asp Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_006210 p.Ser333Ile Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
Q03154 non-pleiotropic VAR_043114 p.Arg393His Disease rs121912701 0.0028 Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
Q03154 non-pleiotropic VAR_026104 p.Glu233Asp Disease - - Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
Q03154 non-pleiotropic VAR_020452 p.Arg386Cys Disease rs2229152 0.0054 Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
Q03154 non-pleiotropic VAR_065563 p.Arg378Trp Disease - - Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
Q03154 non-pleiotropic VAR_065562 p.Arg378Gln Disease - - Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
Q03154 non-pleiotropic VAR_043113 p.Arg197Trp Disease - - Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
Q03154 non-pleiotropic VAR_051805 p.Asn179Ser Non-Disease rs887540 0.0046 -
Q03154 non-pleiotropic VAR_026105 p.Arg353Cys Disease rs121912698 0.0006 Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
Q9H324 non-pleiotropic VAR_054441 p.Thr134Ser Non-Disease rs7255721 0.1478 -
Q9H324 non-pleiotropic VAR_054440 p.Arg119Gln Non-Disease rs3814291 0.0161 -
Q9H324 non-pleiotropic VAR_054439 p.Ala25Thr Disease - - Weill-Marchesani syndrome 1 (WMS1) [MIM:277600]
Q76LX8 non-pleiotropic VAR_027163 p.Pro457Leu Non-Disease rs36220240 0.0018 -
Q76LX8 non-pleiotropic VAR_067776 p.Ser263Cys Disease rs281875293 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027162 p.Gln456His Non-Disease rs36220239 0.0142 -
Q76LX8 non-pleiotropic VAR_067790 p.Cys908Ser Disease rs281875301 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027117 p.Arg268Pro Disease rs121908477 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027128 p.Ala732Val Non-Disease rs41314453 0.0096 -
Q76LX8 non-pleiotropic VAR_067777 p.Tyr304Cys Disease rs281875285 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027126 p.Ile673Phe Disease rs281875307 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027112 p.Arg102Cys Disease rs121908469 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_067775 p.Asp235His Disease rs281875337 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_067783 p.Arg507Gln Disease rs281875296 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_067788 p.Pro671Leu Disease rs281875295 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027111 p.His96Asp Disease rs121908467 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_067781 p.Arg349Cys Disease rs281875288 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_067786 p.Ala606Pro Disease rs281875290 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027115 p.His234Gln Disease rs281875304 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027109 p.Arg7Trp Non-Disease rs34024143 0.0702 -
Q76LX8 non-pleiotropic VAR_027130 p.Ser903Leu Non-Disease rs78977446 0.0106 -
Q76LX8 non-pleiotropic VAR_027118 p.Trp390Cys Disease rs281875306 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027124 p.Pro618Ala Non-Disease rs28647808 0.0441 -
Q76LX8 non-pleiotropic VAR_027164 p.Glu740Lys Non-Disease rs36221451 0.0073 -
Q76LX8 non-pleiotropic VAR_027119 p.Arg398His Disease rs121908471 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027165 p.Gly982Arg Non-Disease rs36222275 0.0023 -
Q76LX8 non-pleiotropic VAR_027122 p.Cys508Tyr Disease rs281875305 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027121 p.Pro475Ser Non-Disease rs11575933 0.0092 -
Q76LX8 non-pleiotropic VAR_067780 p.Cys347Ser Disease rs281875294 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027139 p.Arg1336Trp Disease rs281875308 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_067772 p.Ile178Thr Disease rs281875289 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_067793 p.Arg1219Trp Disease rs281875339 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027116 p.Ala250Val Disease rs121908478 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027137 p.Cys1213Tyr Disease rs121908474 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027120 p.Gln448Glu Non-Disease rs2301612 0.275 -
Q76LX8 non-pleiotropic VAR_027131 p.Cys908Tyr Disease rs281875301 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]