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
Disease name
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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 269 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P05165 non-pleiotropic VAR_009094 p.Met373Lys Disease - - Propionic acidemia type I (PA-1) [MIM:606054]
P05165 non-pleiotropic VAR_009093 p.Asp368Gly Disease - - Propionic acidemia type I (PA-1) [MIM:606054]
P05165 non-pleiotropic VAR_009087 p.Ala75Pro Disease - - Propionic acidemia type I (PA-1) [MIM:606054]
P05165 non-pleiotropic VAR_023844 p.Cys398Arg Disease - - Propionic acidemia type I (PA-1) [MIM:606054]
P05166 non-pleiotropic VAR_009083 p.Pro228Leu Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_000278 p.Arg410Trp Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_023852 p.Gly188Arg Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_023858 p.Ala468Thr Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_000275 p.Glu168Lys Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_023855 p.Ile430Leu Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_023856 p.Tyr435Cys Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_048163 p.Pro287Ser Non-Disease rs2228310 - -
P05166 non-pleiotropic VAR_000274 p.Arg165Trp Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_009080 p.Leu17Met Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_009085 p.Met442Thr Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_009086 p.Asn536Asp Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_000280 p.Arg512Cys Disease rs186710233 0.0002 Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_009082 p.Val205Asp Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_023848 p.Val107Met Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_023849 p.Gly112Asp Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_023850 p.Ala153Pro Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_000276 p.Gly198Asp Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_000281 p.Leu519Pro Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_000272 p.Ser106Arg Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_023857 p.Tyr439Cys Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_023851 p.Arg165Gln Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_023847 p.Arg67Ser Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_000279 p.Ala497Val Disease rs142403318 0.001 Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_000273 p.Gly131Arg Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_009084 p.Thr428Ile Disease rs28934887 - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_023853 p.Gly246Val Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
P05166 non-pleiotropic VAR_000271 p.Arg44Pro Disease - - Propionic acidemia type II (PA-2) [MIM:606054]
Q96QU1 pleiotropic VAR_069297 p.Asp178Gly Disease - - Usher syndrome 1D/F (USH1DF) [MIM:601067]
Q96QU1 pleiotropic VAR_028289 p.Ser19Ala Non-Disease rs11004439 0.2084 -
Q96QU1 pleiotropic VAR_024036 p.Gly262Asp Disease - - Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533]
Q96QU1 pleiotropic VAR_024035 p.Arg134Gly Disease - - Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533]
Q96QU1 pleiotropic VAR_028291 p.Asp435Ala Non-Disease rs4935502 0.3452 -
Q96QU1 pleiotropic VAR_028290 p.Gly380Ser Non-Disease rs10825269 0.208 -
Q96QU1 pleiotropic VAR_024037 p.Gln1342Lys Disease rs61731387 0.0082 Usher syndrome 1F (USH1F) [MIM:602083]
Q96QU1 pleiotropic VAR_028292 p.Arg929Gln Non-Disease rs2135720 0.2957 -
Q8TAB3 non-pleiotropic VAR_064483 p.His203Pro Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_067479 p.Pro236Ser Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_067481 p.Pro344Arg Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_067480 p.Ala262Asp Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_067474 p.Ala153Thr Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_064840 p.Leu81Arg Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_064842 p.Thr146Arg Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_064848 p.Asp618Asn Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_064487 p.Asp377His Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_046484 p.Val441Glu Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]