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 83 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P02458 pleiotropic VAR_001761 p.Gly1143Ser Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_017643 p.Gly795Arg Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_001749 p.Gly774Ser Disease - - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458 pleiotropic VAR_063892 p.Gly240Asp Disease - - Stickler syndrome 1 (STL1) [MIM:108300]
P02458 pleiotropic VAR_033785 p.Gly1405Ser Non-Disease rs2070739 0.1956 -
P02458 pleiotropic VAR_024821 p.Gly771Ala Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_063891 p.Cys57Tyr Disease - - Stickler syndrome 1 non-syndromic ocular (STL1O) [MIM:609508]
P02458 pleiotropic VAR_017646 p.Gly948Asp Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_017641 p.Gly771Asp Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_017645 p.Arg904Cys Disease - - Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450]
Stickler syndrome 1 (STL1) [MIM:108300]
P02458 pleiotropic VAR_001757 p.Gly1017Val Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_024820 p.Gly717Val Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_063898 p.Gly1158Ala Disease - - Stickler syndrome 1 (STL1) [MIM:108300]
P02458 pleiotropic VAR_001744 p.Gly447Ser Disease - - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458 pleiotropic VAR_023935 p.Tyr1391Cys Disease - - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
P02458 pleiotropic VAR_001747 p.Gly510Asp Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_001752 p.Gly891Arg Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458 pleiotropic VAR_024824 p.Asp1469His Disease - - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
P02458 pleiotropic VAR_023929 p.Gly717Ser Disease - - Primary avascular necrosis of femoral head (ANFH) [MIM:608805]
P02458 pleiotropic VAR_017644 p.Gly894Glu Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_017105 p.Thr1439Met Disease - - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458 pleiotropic VAR_063897 p.Asp547Val Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_063893 p.Gly270Arg Disease - - Stickler syndrome 1 (STL1) [MIM:108300]
P02458 pleiotropic VAR_063896 p.Gly501Arg Disease - - Stickler syndrome 1 (STL1) [MIM:108300]
P02458 pleiotropic VAR_017647 p.Gly981Ser Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_017652 p.Val1331Ile Non-Disease rs12721427 0.0363 -
P02458 pleiotropic VAR_023932 p.Arg992Gly Disease - - Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]
P02458 pleiotropic VAR_017651 p.Gly1173Arg Disease - - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458 pleiotropic VAR_001743 p.Gly375Arg Disease - - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
P02458 pleiotropic VAR_024819 p.Gly513Ser Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_017640 p.Gly453Val Disease - - Achondrogenesis 2 (ACG2) [MIM:200610]
P02458 pleiotropic VAR_023931 p.Gly897Val Disease - - Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]
P02461 pleiotropic VAR_001800 p.Gly1170Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011143 p.Gly972Ala Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011155 p.Gly1164Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011108 p.Gly252Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011130 p.Gly738Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011119 p.Gly501Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011157 p.Gly1170Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011121 p.Gly549Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011154 p.Gly1161Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011141 p.Gly942Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001786 p.Gly936Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011147 p.Gly1032Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001787 p.Gly936Ser Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011117 p.Gly444Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011145 p.Gly999Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001779 p.Gly726Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011116 p.Gly417Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_055667 p.Pro686Ala Non-Disease rs41263775 0.0005 -