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 85 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P02461 pleiotropic VAR_001769 p.Gly201Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001789 p.Gly957Ser Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011106 p.Gly249Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011122 p.Gly552Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001806 p.Gly1188Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011123 p.Gly588Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001807 p.Gly1188Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011120 p.Gly519Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011133 p.Gly852Cys Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001775 p.Pro602Thr Non-Disease rs35795890 0.0055 -
P02461 pleiotropic VAR_001804 p.Gly1185Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001781 p.Gly762Cys Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001768 p.Gly183Cys Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011134 p.Gly879Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011135 p.Gly882Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011113 p.Gly321Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011137 p.Gly903Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011111 p.Gly264Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011104 p.Gly243Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001805 p.Gly1185Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011138 p.Gly909Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011136 p.Gly900Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001772 p.Gly540Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001778 p.Ala698Thr Non-Disease rs1800255 0.2094 -
P02461 pleiotropic VAR_001793 p.Gly1050Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011132 p.Gly828Trp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011115 p.Gly345Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011125 p.Gly657Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011096 p.Gly183Ser Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011148 p.Gly1035Cys Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011100 p.Gly210Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011128 p.Gly699Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_037007 p.Gly297Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011159 p.Gly1179Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011110 p.Gly255Val Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_011105 p.Gly249Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_055666 p.Ala679Thr Non-Disease rs41263773 0.0014 -
P02461 pleiotropic VAR_011103 p.Gly240Arg Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_020012 p.Ile1205Val Non-Disease rs2271683 0.0165 -
P02461 pleiotropic VAR_055665 p.Gly534Glu Non-Disease rs41263744 - -
P02461 pleiotropic VAR_011151 p.Gly1089Asp Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02461 pleiotropic VAR_001792 p.Gly1014Glu Disease - - Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]
P02462 pleiotropic VAR_020013 p.Gln1334His Non-Disease rs3742207 0.2925 -
P02462 pleiotropic VAR_064498 p.Gly805Arg Disease - - Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595]
P02462 pleiotropic VAR_044159 p.Gly498Val Disease - - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
P02462 pleiotropic VAR_044160 p.Gly519Arg Disease - - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
P02462 pleiotropic VAR_030031 p.Gly1236Arg Disease - - Porencephaly 1 (POREN1) [MIM:175780]
P02462 pleiotropic VAR_030027 p.Val7Leu Non-Disease rs9515185 0.4385 -
P02462 pleiotropic VAR_030032 p.Gly1423Arg Disease - - Porencephaly 1 (POREN1) [MIM:175780]
P02462 pleiotropic VAR_064495 p.Gly525Leu Disease - - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]