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 80 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P02452 pleiotropic VAR_063334 p.Gly1055Asp Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001691 p.Pro823Ala Non-Disease rs1800214 - -
P02452 pleiotropic VAR_030014 p.Ser1251Thr Non-Disease rs3205325 - -
P02452 pleiotropic VAR_013579 p.Arg312Cys Disease - - Ehlers-Danlos syndrome 1 (EDS1) [MIM:130000]
P02452 pleiotropic VAR_063320 p.Gly683Ser Disease - - Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_001709 p.Gly1058Ser Disease - - Osteogenesis imperfecta 3 (OI3) [MIM:259420]
Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_001712 p.Thr1075Ala Non-Disease rs1800215 0.0239 -
P02452 pleiotropic VAR_001653 p.Gly356Cys Disease - - Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_001645 p.Gly224Cys Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_001719 p.Gly1106Ala Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063321 p.Gly722Ser Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_001687 p.Gly776Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063309 p.Gly455Asp Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001694 p.Gly845Arg Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001681 p.Gly728Arg Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001665 p.Gly527Cys Disease - - Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_063313 p.Pro555Arg Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_063298 p.Gly266Glu Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_001683 p.Gly743Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001686 p.Gly767Ser Disease - - Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452 pleiotropic VAR_001728 p.Gly1184Val Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063315 p.Gly581Arg Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001670 p.Gly560Arg Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001713 p.Gly1076Ser Disease - - Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452 pleiotropic VAR_033778 p.Arg1141Gln Non-Disease rs41316713 0.0002 -
P02452 pleiotropic VAR_063312 p.Gly548Ala Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001735 p.Leu1388Arg Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001643 p.Pro205Ala Non-Disease rs72667032 0.0028 -
P02452 pleiotropic VAR_001644 p.Gly221Cys Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_001650 p.Gly332Arg Disease - - Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452 pleiotropic VAR_033780 p.Lys1430Asn Non-Disease rs1059454 - -
P02452 pleiotropic VAR_063322 p.Gly734Val Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001732 p.Asp1277His Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001668 p.Gly560Ser Disease - - Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_001726 p.Gly1172Asp Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001705 p.Gly1040Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452 pleiotropic VAR_063297 p.Gly257Arg Disease - - Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_001667 p.Gly533Asp Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_030016 p.Pro1438Arg Non-Disease rs17857117 - -
P02452 pleiotropic VAR_033779 p.Val1177Ile Non-Disease rs41316719 - -
P02452 pleiotropic VAR_063317 p.Gly605Asp Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063338 p.Gly1157Asp Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_001727 p.Gly1181Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001710 p.Gly1061Asp Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063307 p.Gly368Val Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063310 p.Gly470Val Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001679 p.Gly719Asp Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001688 p.Gly809Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001731 p.Gly1195Cys Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_001720 p.Gly1124Cys Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]