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 79 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P13942 pleiotropic VAR_033797 p.Glu1628Asp Non-Disease rs2229790 0.003 -
P13942 pleiotropic VAR_025276 p.Pro621Thr Disease - - Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706]
P13942 pleiotropic VAR_013592 p.Glu824Lys Non-Disease rs1799909 - -
P13942 pleiotropic VAR_013591 p.Asp593Gly Non-Disease - - -
P13942 pleiotropic VAR_048806 p.Leu894Pro Non-Disease rs2855430 0.1022 -
P13942 pleiotropic VAR_048807 p.Pro1722Leu Non-Disease rs2229792 0.0119 -
P13942 pleiotropic VAR_048805 p.Glu276Lys Non-Disease rs9277934 0.2888 -
P13942 pleiotropic VAR_048804 p.Pro236Ser Non-Disease rs35116188 - -
P13942 pleiotropic VAR_013593 p.Pro879Leu Non-Disease - - -
P13942 pleiotropic VAR_010655 p.Gly808Glu Disease - - Deafness, autosomal dominant, 13 (DFNA13) [MIM:601868]
P13942 pleiotropic VAR_013596 p.Pro1316Thr Non-Disease rs2229784 0.0537 -
P13942 pleiotropic VAR_013595 p.Gly1441Glu Disease - - Weissenbacher-Zweymueller syndrome (WZS) [MIM:277610]
Q9UMD9 non-pleiotropic VAR_017599 p.Gly633Asp Disease - - Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
Q9UMD9 non-pleiotropic VAR_017597 p.Gly428Ser Non-Disease rs805698 0.1589 -
Q9UMD9 non-pleiotropic VAR_048781 p.Thr4Ala Non-Disease rs17116471 0.0294 -
Q9UMD9 non-pleiotropic VAR_017593 p.Thr210Met Non-Disease rs805708 0.3994 -
Q9UMD9 non-pleiotropic VAR_017598 p.Gly627Val Disease - - Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
Q9UMD9 non-pleiotropic VAR_017594 p.Met231Ile Non-Disease rs1054113 - -
Q9UMD9 non-pleiotropic VAR_017602 p.Asp1370Gly Non-Disease rs17116350 0.2342 -
Q9UMD9 non-pleiotropic VAR_017596 p.Ser265Cys Disease - - Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
Q9UMD9 non-pleiotropic VAR_017600 p.Met703Val Non-Disease rs805722 0.2755 -
Q9UMD9 non-pleiotropic VAR_017601 p.Arg1303Gln Disease rs121912771 0.0002 Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
Q9UMD9 non-pleiotropic VAR_017595 p.Met238Thr Non-Disease - - -
P02452 pleiotropic VAR_001717 p.Gly1091Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001656 p.Gly389Arg Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063342 p.Gly848Arg Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063302 p.Gly320Val Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_063290 p.Gly22Arg Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063305 p.Gly353Asp Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001730 p.Gly1187Val Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001711 p.Gly1061Ser Disease - - Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_001721 p.Gly1142Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001676 p.Gly656Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063323 p.Gly740Arg Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_030015 p.Gln1391Lys Non-Disease rs2586486 - -
P02452 pleiotropic VAR_001648 p.Gly272Cys Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_063299 p.Gly287Ser Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_001671 p.Arg564His Non-Disease rs1800211 - -
P02452 pleiotropic VAR_001718 p.Gly1100Asp Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001664 p.Gly476Arg Disease rs57377812 - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001672 p.Gly569Arg Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001661 p.Gly422Cys Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063303 p.Gly338Cys Disease - - Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_001700 p.Gly980Val Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_030017 p.Pro1460His Non-Disease rs17853657 - -
P02452 pleiotropic VAR_008118 p.Gly866Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452 pleiotropic VAR_001736 p.Thr1434Ser Non-Disease rs1800220 - -
P02452 pleiotropic VAR_001684 p.Gly743Val Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001642 p.Gly197Cys Non-Disease rs8179178 - -
P02452 pleiotropic VAR_001699 p.Gly926Cys Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]