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 86 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P02462 pleiotropic VAR_064499 p.Gly1580Arg Disease - - Porencephaly 1 (POREN1) [MIM:175780]
P02462 pleiotropic VAR_044161 p.Gly528Glu Disease - - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
P02462 pleiotropic VAR_030028 p.Gly562Glu Disease - - Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595]
P02462 pleiotropic VAR_044158 p.Pro304Leu Non-Disease rs34843786 0.0037 -
P02462 pleiotropic VAR_030511 p.Thr555Pro Non-Disease rs536174 0.0 -
P02462 pleiotropic VAR_064494 p.Gly510Arg Disease - - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
P02462 pleiotropic VAR_030030 p.Gly1130Asp Disease - - Porencephaly 1 (POREN1) [MIM:175780]
P02462 pleiotropic VAR_064497 p.Gly755Arg Disease - - Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595]
P02462 pleiotropic VAR_064493 p.Gly498Arg Disease - - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
P02462 pleiotropic VAR_064496 p.Gly720Asp Disease - - Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595]
P02462 pleiotropic VAR_030029 p.Gly749Ser Disease - - Porencephaly 1 (POREN1) [MIM:175780]
P29400 non-pleiotropic VAR_001958 p.Gly1143Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001954 p.Gly872Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011282 p.Gly1244Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011270 p.Gly1039Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001965 p.Arg1422Cys Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001918 p.Gly177Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001928 p.Gly374Ala Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011290 p.Arg1677Pro Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_007998 p.Gly635Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001937 p.Gly494Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001968 p.Pro1517Thr Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011237 p.Gly524Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_007997 p.Gly579Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011252 p.Pro739Ser Disease rs104886164 0.0034 Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011227 p.Gly295Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011269 p.Gly1036Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001963 p.Arg1410Cys Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011275 p.Gly1158Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011260 p.Gly911Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011222 p.Gly204Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001950 p.Gly796Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001943 p.Gly638Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011281 p.Gly1229Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001946 p.Lys664Asn Non-Disease rs34077552 0.006 -
P29400 non-pleiotropic VAR_001959 p.Gly1182Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_007992 p.Gly331Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001939 p.Gly521Cys Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011268 p.Gly1030Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001930 p.Gly400Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001929 p.Gly383Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011262 p.Gly947Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011225 p.Gly264Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011234 p.Gly423Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001967 p.Ala1498Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011291 p.Cys1678Trp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_008006 p.Gly878Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_007993 p.Gly472Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011287 p.Ser1488Phe Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011230 p.Gly412Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]