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.

Refine Search

UniProtID
Disease name
Protein type
Variant type
Use data from

Show per page.

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 88 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P29400 non-pleiotropic VAR_011224 p.Gly239Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011258 p.Met898Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011274 p.Gly1086Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001951 p.Gly852Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011244 p.Gly621Cys Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011255 p.Gly811Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011245 p.Gly624Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_008001 p.Gly687Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_008011 p.Gly1220Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011253 p.Gly802Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011289 p.Cys1567Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001927 p.Gly371Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011273 p.Gly1066Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011284 p.Gly1261Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001919 p.Gly216Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001961 p.Gly1270Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_008012 p.Gly1333Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001917 p.Gly174Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011261 p.Gly941Cys Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011243 p.Pro619Ser Non-Disease - - -
P29400 non-pleiotropic VAR_011278 p.Gly1196Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011283 p.Gly1252Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001945 p.Gly653Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011231 p.Gly415Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011236 p.Gly497Cys Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_008014 p.Gly1442Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_008016 p.Pro1559Ala Non-Disease - - -
P29400 non-pleiotropic VAR_011249 p.Gly681Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001920 p.Gly219Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001933 p.Ala430Asp Non-Disease rs142883891 0.0042 -
P29400 non-pleiotropic VAR_008010 p.Gly1211Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011264 p.Gly1006Ala Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_008005 p.Gly852Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001932 p.Gly409Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001934 p.Ile444Ser Non-Disease rs2272946 0.1125 -
P29400 non-pleiotropic VAR_011223 p.Gly230Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_007994 p.Gly545Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001936 p.Gly466Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_008008 p.Gly1107Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001970 p.Arg1563Gln Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001914 p.Gly54Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001944 p.Gly638Ala Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011285 p.Gly1357Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011240 p.Gly579Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001972 p.Gly1596Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001956 p.Gly1104Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_007999 p.Gly638Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001922 p.Gly292Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001952 p.Gly866Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011265 p.Gly1006Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]