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 271 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P35913 pleiotropic VAR_068362 p.Asp776Asn Disease rs141563823 0.0002 Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913 pleiotropic VAR_009286 p.Tyr219His Disease rs62295357 0.0018 Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913 pleiotropic VAR_009288 p.Leu228Ile Non-Disease - - -
P35913 pleiotropic VAR_009291 p.Ile535Asn Disease - - Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913 pleiotropic VAR_009292 p.Arg552Gln Disease - - Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913 pleiotropic VAR_009290 p.Leu527Pro Disease - - Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913 pleiotropic VAR_006051 p.Gly576Asp Disease - - Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913 pleiotropic VAR_006050 p.His557Tyr Disease - - Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913 pleiotropic VAR_009284 p.Glu166Lys Non-Disease rs115775983 0.0078 -
P35913 pleiotropic VAR_009285 p.Tyr212His Non-Disease - - -
P35913 pleiotropic VAR_006052 p.Leu699Arg Disease - - Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913 pleiotropic VAR_009283 p.Arg74Cys Disease - - Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913 pleiotropic VAR_009293 p.Leu854Arg Disease - - Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913 pleiotropic VAR_009289 p.His258Asn Disease - - Night blindness, congenital stationary, autosomal dominant 2 (CSNBAD2) [MIM:163500]
P35913 pleiotropic VAR_054868 p.Val320Ile Non-Disease rs10902758 0.0005 -
P35913 pleiotropic VAR_009287 p.Leu228His Disease - - Retinitis pigmentosa 40 (RP40) [MIM:613801]
P35913 pleiotropic VAR_054869 p.Glu654Asp Non-Disease rs17849286 - -
P51160 non-pleiotropic VAR_050476 p.Glu699Ala Non-Disease rs12261131 0.0165 -
P51160 non-pleiotropic VAR_062410 p.Met455Val Disease - - Cone dystrophy 4 (COD4) [MIM:613093]
P51160 non-pleiotropic VAR_025470 p.Asp157Glu Non-Disease rs76999928 0.0106 -
P51160 non-pleiotropic VAR_025471 p.Lys822Asn Non-Disease rs79487435 0.0028 -
P51160 non-pleiotropic VAR_062408 p.Arg29Trp Disease - - Cone dystrophy 4 (COD4) [MIM:613093]
P51160 non-pleiotropic VAR_050475 p.Ser270Thr Non-Disease rs701865 0.4279 -
P51160 non-pleiotropic VAR_025472 p.Glu834Gly Non-Disease - - -
P51160 non-pleiotropic VAR_062409 p.Tyr323Asn Disease - - Cone dystrophy 4 (COD4) [MIM:613093]
P09619 pleiotropic VAR_069321 p.Arg987Trp Disease - - Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007]
P09619 pleiotropic VAR_035125 p.Ser180Phe Non-Disease rs17853027 - -
P09619 pleiotropic VAR_042030 p.Asn718Tyr Non-Disease rs35322465 - -
P09619 pleiotropic VAR_069320 p.Leu658Pro Disease - - Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007]
P09619 pleiotropic VAR_034377 p.Ile29Phe Non-Disease rs17110944 0.0744 -
P09619 pleiotropic VAR_042028 p.Glu485Lys Non-Disease rs41287110 0.0179 -
P09619 pleiotropic VAR_049717 p.Pro345Ser Non-Disease rs2229558 0.0041 -
P09619 pleiotropic VAR_069926 p.Pro660Thr Disease rs144050370 - Myofibromatosis, infantile 1 (IMF1) [MIM:228550]
P09619 pleiotropic VAR_069925 p.Arg561Cys Disease - - Myofibromatosis, infantile 1 (IMF1) [MIM:228550]
P09619 pleiotropic VAR_042027 p.Glu282Lys Non-Disease rs34586048 0.0005 -
P08559 pleiotropic VAR_004956 p.Pro217Leu Disease - - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559 pleiotropic VAR_021055 p.Arg288His Disease - - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559 pleiotropic VAR_004958 p.Asp258Ala Disease - - Leigh syndrome, X-linked (X-LS) [MIM:308930]
P08559 pleiotropic VAR_004952 p.Val167Met Disease - - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559 pleiotropic VAR_004959 p.Arg263Gly Disease rs28936081 - Leigh syndrome, X-linked (X-LS) [MIM:308930]
Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559 pleiotropic VAR_004960 p.Arg263Gln Disease - - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559 pleiotropic VAR_004950 p.His113Asp Disease - - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559 pleiotropic VAR_004963 p.Arg302His Disease - - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559 pleiotropic VAR_010238 p.Arg10Pro Disease - - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559 pleiotropic VAR_004961 p.His292Leu Disease - - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559 pleiotropic VAR_004966 p.Arg378His Disease - - Leigh syndrome, X-linked (X-LS) [MIM:308930]
P08559 pleiotropic VAR_004954 p.Phe205Leu Disease - - Leigh syndrome, X-linked (X-LS) [MIM:308930]
P08559 pleiotropic VAR_004962 p.Arg302Cys Disease - - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559 pleiotropic VAR_021054 p.Met282Leu Non-Disease rs2229137 0.0586 -
P08559 pleiotropic VAR_021056 p.Asp315Asn Disease rs28935187 - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]