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 82 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P02452 pleiotropic VAR_063341 p.Asp1413Asn Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001654 p.Gly383Cys Disease - - Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_001722 p.Gly1151Ser Disease - - Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452 pleiotropic VAR_001692 p.Gly839Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001725 p.Gly1166Cys Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063337 p.Gly1094Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001663 p.Gly434Val Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001733 p.Trp1312Cys Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001704 p.Gly1025Arg Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001723 p.Gly1151Val Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001657 p.Gly398Ala Disease - - Osteogenesis imperfecta 4 (OI4) [MIM:166220]
P02452 pleiotropic VAR_001729 p.Gly1187Ser Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452 pleiotropic VAR_001695 p.Gly851Asp Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001737 p.Leu1464Pro Disease - - Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02452 pleiotropic VAR_063330 p.Gly947Cys Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_063331 p.Gly977Asp Disease - - Osteogenesis imperfecta 2 (OI2) [MIM:166210]
P02452 pleiotropic VAR_001647 p.Gly263Val Disease - - Osteogenesis imperfecta 1 (OI1) [MIM:166200]
P02452 pleiotropic VAR_001651 p.Gly350Arg Disease - - Osteogenesis imperfecta 3 (OI3) [MIM:259420]
P02458 pleiotropic VAR_001763 p.Gly1176Ser Disease - - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458 pleiotropic VAR_023930 p.Gly855Ser Disease - - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458 pleiotropic VAR_024822 p.Thr1390Asn Disease - - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
P02458 pleiotropic VAR_001754 p.Gly969Ser Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_023925 p.Gly318Arg Disease - - Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]
P02458 pleiotropic VAR_001759 p.Gly1110Cys Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_033783 p.Thr638Ile Non-Disease rs41263847 0.0046 -
P02458 pleiotropic VAR_001745 p.Gly492Val Disease - - Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]
P02458 pleiotropic VAR_017639 p.Gly453Asp Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_001764 p.Gly1188Arg Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_017649 p.Gly1065Val Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_024826 p.Cys1485Gly Disease - - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
P02458 pleiotropic VAR_001755 p.Arg989Cys Disease - - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458 pleiotropic VAR_001748 p.Arg719Cys Disease - - Osteoarthritis with mild chondrodysplasia (OACD) [MIM:604864]
P02458 pleiotropic VAR_001765 p.Gly1197Ser Disease - - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458 pleiotropic VAR_001739 p.Arg275Cys Disease - - Czech dysplasia (CZECHD) [MIM:609162]
P02458 pleiotropic VAR_001746 p.Gly504Cys Disease - - Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]
P02458 pleiotropic VAR_033782 p.Glu142Asp Non-Disease rs34392760 0.0266 -
P02458 pleiotropic VAR_001738 p.Gly267Asp Disease - - Stickler syndrome 1 non-syndromic ocular (STL1O) [MIM:609508]
P02458 pleiotropic VAR_023928 p.Leu667Phe Disease - - Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]
P02458 pleiotropic VAR_063894 p.Gly282Asp Disease - - Stickler syndrome 1 (STL1) [MIM:108300]
P02458 pleiotropic VAR_017642 p.Gly780Arg Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_017650 p.Gly1119Arg Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_023927 p.Arg565Cys Disease - - Stickler syndrome 1 (STL1) [MIM:108300]
P02458 pleiotropic VAR_019836 p.Pro158Leu Non-Disease rs1050861 - -
P02458 pleiotropic VAR_063895 p.Gly453Ala Disease - - Stickler syndrome 1 (STL1) [MIM:108300]
P02458 pleiotropic VAR_033784 p.Ala1051Thr Non-Disease rs41272041 0.0005 -
P02458 pleiotropic VAR_023933 p.Gly1170Ser Disease - - Primary avascular necrosis of femoral head (ANFH) [MIM:608805]
P02458 pleiotropic VAR_001741 p.Gly303Asp Disease - - Kniest dysplasia (KD) [MIM:156550]
P02458 pleiotropic VAR_001753 p.Gly909Cys Disease - - Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]
P02458 pleiotropic VAR_017638 p.Thr9Ser Non-Disease rs3803183 0.3049 -
P02458 pleiotropic VAR_024823 p.Thr1448Pro Disease - - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]