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 87 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P29400 non-pleiotropic VAR_008013 p.Gly1427Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011221 p.Gly192Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_008003 p.Gly808Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001921 p.Gly289Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011238 p.Gly558Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_008009 p.Gly1161Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011228 p.Gly298Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001931 p.Gly406Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011247 p.Gly632Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011279 p.Gly1205Cys Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011286 p.Leu1428Met Non-Disease - - -
P29400 non-pleiotropic VAR_011256 p.Gly822Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011235 p.Gly491Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011272 p.Gly1066Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001949 p.Gly772Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001964 p.Gly1421Trp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011263 p.Gly953Val Disease rs78972735 0.0079 Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011271 p.Gly1045Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_008002 p.Gly743Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001973 p.Leu1649Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011280 p.Gly1211Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_008000 p.Gly669Ala Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001960 p.Gly1241Cys Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011239 p.Gly573Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011277 p.Gly1170Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001971 p.Cys1564Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001940 p.Gly521Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011251 p.Pro739Ala Non-Disease rs104886164 0.0054 -
P29400 non-pleiotropic VAR_007995 p.Gly545Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001916 p.Gly129Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011229 p.Gly319Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011226 p.Gly292Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001915 p.Gly129Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001925 p.Gly365Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011267 p.Gly1015Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011276 p.Gly1167Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011248 p.Glu633Lys Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011250 p.Gly722Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011241 p.Gly603Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011233 p.Gly420Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011242 p.Gly609Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011232 p.Gly420Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001941 p.Gly567Ala Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001966 p.Gly1451Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011266 p.Gly1015Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001953 p.Gly869Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001974 p.Arg1677Gln Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001969 p.Trp1538Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011259 p.Gly902Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011220 p.Gly177Cys Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]