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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UniProtID
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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 84 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P02461 pleiotropic VAR_001799 p.Gly1167Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011129 p.Gly738Ser Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001774 p.Gly582Ser Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001784 p.Gly828Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011098 p.Gly204Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001785 p.Gly909Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001773 p.Gly567Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011126 p.Gly660Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001780 p.Gly756Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001801 p.Gly1173Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011158 p.Gly1173Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001782 p.Gly786Arg Disease - - Aortic aneurysm, familial abdominal (AAA) [MIM:100070]
P02461 pleiotropic VAR_011109 p.Gly252Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011124 p.Gly636Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011146 p.Gly1011Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011150 p.Gly1050Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001770 p.Gly228Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001803 p.Gly1182Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011152 p.Gly1098Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011131 p.Gly744Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001767 p.Leu169Phe Disease - - Aortic aneurysm, familial abdominal (AAA) [MIM:100070]
P02461 pleiotropic VAR_001777 p.Gly666Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001802 p.Gly1176Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001795 p.Gly1077Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001788 p.Gly939Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011153 p.Gly1098Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011101 p.Gly219Cys Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011139 p.Gly918Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001776 p.Pro635Leu Non-Disease - - -
P02461 pleiotropic VAR_011097 p.Gly192Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011107 p.Gly252Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011149 p.Gly1044Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011127 p.Pro668Thr Non-Disease rs1801183 0.0018 -
P02461 pleiotropic VAR_011095 p.Gly183Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011156 p.Gly1164Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011099 p.Gly204Ser Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011112 p.Gly267Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011114 p.Gly327Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001794 p.Gly1071Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011140 p.Gly924Cys Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001796 p.Gly1101Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011144 p.Gly984Thr Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011102 p.Gly225Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001797 p.Gly1104Ala Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001783 p.Gly804Ser Disease - - Ehlers-Danlos syndrome 3 (EDS3) [MIM:130020]
P02461 pleiotropic VAR_011118 p.Gly489Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001791 p.Gly996Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011142 p.Gly966Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001790 p.Gly960Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_030115 p.His1353Gln Non-Disease rs1516446 0.0032 -