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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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 164 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P43026 pleiotropic VAR_037982 p.Ser475Asn Disease - - Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]
P43026 pleiotropic VAR_037983 p.Glu491Lys Disease - - Symphalangism, proximal 1B (SYM1B) [MIM:615298]
P43026 pleiotropic VAR_046743 p.Arg380Gln Disease - - Brachydactyly A2 (BDA2) [MIM:112600]
P43026 pleiotropic VAR_064416 p.Arg399Cys Disease - - Brachydactyly A1, C (BDA1C) [MIM:615072]
P43026 pleiotropic VAR_054911 p.Pro436Thr Disease - - Du Pan syndrome (DPS) [MIM:228900]
P43026 pleiotropic VAR_054909 p.Leu373Arg Disease - - Symphalangism, proximal 1B (SYM1B) [MIM:615298]
P43026 pleiotropic VAR_037978 p.Met173Val Disease rs28936397 - Brachydactyly C (BDC) [MIM:113100]
P43026 pleiotropic VAR_026120 p.Ser276Ala Non-Disease rs224331 0.3356 -
P43026 pleiotropic VAR_026545 p.Arg438Leu Disease - - Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]
Symphalangism, proximal 1B (SYM1B) [MIM:615298]
P43026 pleiotropic VAR_037981 p.His440Leu Disease - - Du Pan syndrome (DPS) [MIM:228900]
P43026 pleiotropic VAR_017408 p.Leu441Pro Disease rs28936683 - Brachydactyly A2 (BDA2) [MIM:112600]
Du Pan syndrome (DPS) [MIM:228900]
P43026 pleiotropic VAR_037977 p.Arg163Gly Non-Disease rs34534075 - -
P43026 pleiotropic VAR_054910 p.Arg378Gln Disease - - Du Pan syndrome (DPS) [MIM:228900]
P43026 pleiotropic VAR_017407 p.Cys400Tyr Disease - - Acromesomelic chondrodysplasia, Grebe type (AMDG) [MIM:200700]
Q6KF10 pleiotropic VAR_063025 p.Gln119Arg Disease rs140579014 0.0004 Microphthalmia, isolated, 4 (MCOP4) [MIM:613094]
Q6KF10 pleiotropic VAR_070254 p.Asp57His Disease - - Leber congenital amaurosis 17 (LCA17) [MIM:615360]
Q6KF10 pleiotropic VAR_063026 p.Asp216Gly Disease - - Microphthalmia, isolated, 4 (MCOP4) [MIM:613094]
Q6KF10 pleiotropic VAR_063028 p.Pro327His Disease - - Microphthalmia, isolated, 4 (MCOP4) [MIM:613094]
Q6KF10 pleiotropic VAR_063029 p.Lys424Arg Disease rs121909353 0.0008 Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100]
Q6KF10 pleiotropic VAR_065151 p.Ala199Thr Disease - - Leber congenital amaurosis 17 (LCA17) [MIM:615360]
Q6KF10 pleiotropic VAR_063024 p.Gly42Val Disease rs121909354 0.0014 Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100]
Q6KF10 pleiotropic VAR_063027 p.Gln253Leu Disease - - Microphthalmia, isolated, 4 (MCOP4) [MIM:613094]
Q6KF10 pleiotropic VAR_070255 p.Glu292Asp Disease - - Leber congenital amaurosis 17 (LCA17) [MIM:615360]
Q6KF10 pleiotropic VAR_023599 p.Lys110Glu Non-Disease rs2245091 - -
Q6KF10 pleiotropic VAR_046904 p.Leu289Pro Disease - - Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100]
Q6KF10 pleiotropic VAR_046903 p.Ala249Glu Disease - - Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100]
Leber congenital amaurosis 17 (LCA17) [MIM:615360]
Microphthalmia, isolated, 4 (MCOP4) [MIM:613094]
P31150 non-pleiotropic VAR_008131 p.Arg423Pro Disease - - Mental retardation, X-linked 41 (MRX41) [MIM:300849]
P31150 non-pleiotropic VAR_008130 p.Leu92Pro Disease - - Mental retardation, X-linked 41 (MRX41) [MIM:300849]
P14136 non-pleiotropic VAR_017468 p.Arg79His Disease rs59285727 - Alexander disease (ALEXD) [MIM:203450]
P14136 non-pleiotropic VAR_017473 p.Ala244Val Disease rs61497286 - Alexander disease (ALEXD) [MIM:203450]
P14136 non-pleiotropic VAR_017475 p.Glu362Asp Disease rs28932768 - Alexander disease (ALEXD) [MIM:203450]
P14136 non-pleiotropic VAR_017476 p.Arg416Trp Disease - - Alexander disease (ALEXD) [MIM:203450]
P14136 non-pleiotropic VAR_017467 p.Arg79Cys Disease rs59793293 - Alexander disease (ALEXD) [MIM:203450]
P14136 non-pleiotropic VAR_017471 p.Arg239Cys Disease rs58064122 - Alexander disease (ALEXD) [MIM:203450]
P14136 non-pleiotropic VAR_017466 p.Asn77Tyr Disease rs58732244 - Alexander disease (ALEXD) [MIM:203450]
P14136 non-pleiotropic VAR_017479 p.Asp295Asn Non-Disease rs1126642 0.0574 -
P14136 non-pleiotropic VAR_017478 p.Glu223Gln Disease rs56679084 0.0004 Alexander disease (ALEXD) [MIM:203450]
P14136 non-pleiotropic VAR_017465 p.Leu76Phe Disease rs57120761 - Alexander disease (ALEXD) [MIM:203450]
P14136 non-pleiotropic VAR_017477 p.Asp78Glu Disease - - Alexander disease (ALEXD) [MIM:203450]
P14136 non-pleiotropic VAR_017472 p.Arg239His Disease rs59565950 - Alexander disease (ALEXD) [MIM:203450]
P14136 non-pleiotropic VAR_017470 p.Arg88Ser Disease - - Alexander disease (ALEXD) [MIM:203450]
P14136 non-pleiotropic VAR_017469 p.Arg88Cys Disease rs61622935 - Alexander disease (ALEXD) [MIM:203450]
P14136 non-pleiotropic VAR_017474 p.Arg258Pro Disease rs61726468 - Alexander disease (ALEXD) [MIM:203450]
P55789 non-pleiotropic VAR_061994 p.Phe166Leu Non-Disease rs36041021 0.0432 -
P55789 non-pleiotropic VAR_063435 p.Arg194His Disease rs121908192 - Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCHD) [MIM:613076]
Q96RP9 non-pleiotropic VAR_021512 p.Asn174Ser Disease rs28939098 - Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060]
Q96RP9 non-pleiotropic VAR_028303 p.Val215Ile Non-Disease rs2303909 0.4481 -
Q96RP9 non-pleiotropic VAR_031901 p.Met496Arg Disease - - Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060]
Q06210 non-pleiotropic VAR_065342 p.Arg111Cys Disease rs201322234 0.0002 Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]
Q06210 non-pleiotropic VAR_065347 p.Arg452His Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]