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 81 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P02452 pleiotropic VAR_001674 p.Gly593Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452 pleiotropic VAR_001706 p.Gly1043Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063292 p.Gly194Arg Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_063328 p.Gly896Asp Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001673 p.Gly593Cys Disease - - Osteogenesis imperfecta 3 (OI3) [MIM:259420]
Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_001649 p.Gly275Asp Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001666 p.Gly530Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
Osteogenesis imperfecta 3 (OI3) [MIM:259420]
Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_030013 p.Gly1019Ala Non-Disease rs1135348 - -
P02452 pleiotropic VAR_001669 p.Gly560Cys Disease - - Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_033781 p.Thr1431Pro Non-Disease rs1059454 - -
P02452 pleiotropic VAR_001662 p.Gly425Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063327 p.Gly875Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001659 p.Gly401Cys Disease - - Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_063306 p.Gly353Ser Disease - - Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_063316 p.Gly602Arg Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_033097 p.Arg1014Cys Disease - - Caffey disease (CAFFD) [MIM:114000]
P02452 pleiotropic VAR_001716 p.Gly1088Ala Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063324 p.Gly824Arg Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001696 p.Gly869Cys Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001701 p.Gly1010Ser Disease - - Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_063332 p.Gly1001Cys Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063318 p.Gly614Arg Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063311 p.Gly509Val Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001680 p.Gly719Ser Disease - - Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452 pleiotropic VAR_063293 p.Gly197Arg Disease - - Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_001678 p.Gly704Cys Disease - - Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452 pleiotropic VAR_001698 p.Gly896Cys Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001703 p.Gly1022Val Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001685 p.Gly764Val Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063295 p.Gly203Val Disease - - Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452 pleiotropic VAR_063319 p.Gly647Ser Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_001677 p.Gly701Cys Disease - - Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_063325 p.Gly833Asp Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001702 p.Gly1022Ser Disease - - Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452 pleiotropic VAR_063294 p.Gly200Val Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_001724 p.Gly1154Arg Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001715 p.Gly1082Cys Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001652 p.Gly353Cys Disease - - Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_001708 p.Gly1049Ser Disease - - Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452 pleiotropic VAR_001714 p.Gly1079Ser Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001690 p.Gly821Ser Disease - - Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452 pleiotropic VAR_001689 p.Gly815Val Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063340 p.Arg1356His Non-Disease - - -
P02452 pleiotropic VAR_063304 p.Val349Phe Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_001682 p.Gly737Asp Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001697 p.Gly884Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452 pleiotropic VAR_001646 p.Gly263Arg Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_001693 p.Gly842Arg Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063339 p.Asp1219Glu Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_001658 p.Gly398Asp Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]