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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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 17 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
O00116 non-pleiotropic VAR_005002 p.Arg419His Disease - - Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
O00116 non-pleiotropic VAR_025895 p.Thr309Ile Disease - - Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
O00116 non-pleiotropic VAR_025896 p.Leu469Pro Disease - - Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
O00116 non-pleiotropic VAR_066930 p.Glu471Lys Disease - - Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
O00116 non-pleiotropic VAR_066929 p.Arg182Gln Disease - - Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
O00468 non-pleiotropic VAR_068731 p.Val984Met Non-Disease - - -
O00468 non-pleiotropic VAR_068736 p.Gly1341Arg Non-Disease - - -
O00468 non-pleiotropic VAR_068733 p.Thr1118Lys Non-Disease rs149159118 0.0018 -
O00468 non-pleiotropic VAR_068735 p.Pro1240Leu Non-Disease rs142620337 0.0018 -
O00468 non-pleiotropic VAR_068728 p.Ala375Ser Non-Disease rs138031468 0.0014 -
O00468 non-pleiotropic VAR_068724 p.Val23Leu Non-Disease - - -
O00468 non-pleiotropic VAR_068744 p.Asp1789Asn Non-Disease - - -
O00468 non-pleiotropic VAR_068737 p.Pro1451Leu Non-Disease - - -
O00468 non-pleiotropic VAR_068740 p.Arg1671Gln Non-Disease - - -
O00468 non-pleiotropic VAR_068730 p.Gln852Arg Non-Disease rs9697293 0.0335 -
O00468 non-pleiotropic VAR_068726 p.Asn105Ile Non-Disease - - -
O00468 non-pleiotropic VAR_068725 p.Asp58Asn Non-Disease - - -
O00468 non-pleiotropic VAR_068745 p.Gly2045Val Non-Disease - - -
O00468 non-pleiotropic VAR_048966 p.Val1666Ile Non-Disease rs17160775 0.0478 -
O00468 non-pleiotropic VAR_068739 p.Gln1565His Non-Disease rs199876002 0.0037 -
O00468 non-pleiotropic VAR_068741 p.Arg1698Pro Non-Disease - - -
O00468 non-pleiotropic VAR_068734 p.Gln1135Arg Non-Disease rs142416636 0.006 -
O00468 non-pleiotropic VAR_068729 p.Glu728Val Non-Disease rs113288277 0.0193 -
O00468 non-pleiotropic VAR_068727 p.Thr267Met Non-Disease - - -
O00468 non-pleiotropic VAR_068742 p.Gly1709Arg Disease - - Myasthenia, limb-girdle, familial (LGM) [MIM:254300]
O00468 non-pleiotropic VAR_068732 p.Leu1088Phe Non-Disease rs150132566 0.0119 -
O00468 non-pleiotropic VAR_068743 p.Arg1734His Non-Disease rs145444272 0.0028 -
O00468 non-pleiotropic VAR_069066 p.Val1727Phe Disease - - Myasthenia, limb-girdle, familial (LGM) [MIM:254300]
O00468 non-pleiotropic VAR_068738 p.Ala1514Thr Non-Disease rs111818381 0.0069 -
P21549 non-pleiotropic VAR_060562 p.Cys253Arg Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060560 p.Arg233Leu Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060559 p.Ser218Leu Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_000591 p.Ser187Phe Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_008879 p.Arg233Cys Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_048236 p.Asn22Ser Non-Disease rs34885252 0.0418 -
P21549 non-pleiotropic VAR_060566 p.Ser287Thr Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_010973 p.Asp183Asn Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060570 p.Val326Ile Non-Disease rs115057148 0.0023 -
P21549 non-pleiotropic VAR_060563 p.Ile279Met Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_008880 p.Arg233His Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060547 p.Thr9Asn Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060558 p.Asp201Glu Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060549 p.Trp108Arg Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060555 p.Cys173Tyr Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060572 p.Gly350Asp Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060550 p.Ala112Asp Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060565 p.Ala280Val Non-Disease rs73106685 0.0073 -
P21549 non-pleiotropic VAR_000593 p.Ile340Met Non-Disease rs4426527 0.1368 -
P21549 non-pleiotropic VAR_060564 p.Ile279Thr Non-Disease rs140992177 0.0087 -
P21549 non-pleiotropic VAR_060554 p.Gly161Arg Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]