Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
20135 items found (page 1 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9NRG9 | non-pleiotropic | VAR_012806 | p.Ser263Pro | Disease | rs121918550 | 0.0002 | Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550] |
Q9NRG9 | non-pleiotropic | VAR_012805 | p.His160Arg | Disease | - | - | Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550] |
Q9NRG9 | non-pleiotropic | VAR_037060 | p.Lys108Met | Non-Disease | rs13330 | - | - |
Q9NRG9 | non-pleiotropic | VAR_012804 | p.Gln15Lys | Disease | - | - | Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550] |
Q16613 | non-pleiotropic | VAR_048168 | p.Arg15Cys | Non-Disease | rs34470791 | - | - |
Q16613 | non-pleiotropic | VAR_055086 | p.Ala129Thr | Disease | rs28936679 | 0.0048 | Delayed sleep phase syndrome (DSPS) [MIM:614163] |
P49588 | non-pleiotropic | VAR_063527 | p.Arg329His | Disease | - | - | Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287] |
P49588 | non-pleiotropic | VAR_028204 | p.Gly275Asp | Non-Disease | rs11537667 | 0.056 | - |
P49588 | non-pleiotropic | VAR_067084 | p.Asn71Tyr | Disease | - | - | Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287] |
Q5JTZ9 | non-pleiotropic | VAR_065956 | p.Leu155Arg | Disease | - | - | Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096] |
Q5JTZ9 | non-pleiotropic | VAR_027610 | p.Ala484Asp | Non-Disease | rs495294 | - | - |
Q5JTZ9 | non-pleiotropic | VAR_065957 | p.Arg592Trp | Disease | - | - | Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096] |
Q5JTZ9 | non-pleiotropic | VAR_057357 | p.Met850Val | Non-Disease | rs35783144 | 0.0142 | - |
Q5JTZ9 | non-pleiotropic | VAR_027609 | p.Ile339Val | Non-Disease | rs324136 | 0.0886 | - |
P80404 | non-pleiotropic | VAR_008883 | p.Arg220Lys | Disease | - | - | GABA transaminase deficiency (GABATD) [MIM:613163] |
P80404 | non-pleiotropic | VAR_018979 | p.Gln56Arg | Non-Disease | rs1731017 | 0.4992 | - |
Q99758 | non-pleiotropic | VAR_023499 | p.Leu1553Pro | Disease | - | - | Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] |
Q99758 | non-pleiotropic | VAR_025062 | p.Pro766Ser | Non-Disease | rs45592239 | 0.0005 | - |
Q99758 | non-pleiotropic | VAR_023498 | p.Asn568Asp | Disease | - | - | Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] |
Q99758 | non-pleiotropic | VAR_025061 | p.Asn140His | Non-Disease | rs45447801 | 0.0014 | - |
Q99758 | non-pleiotropic | VAR_023497 | p.Leu101Pro | Disease | rs28936412 | - | Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] |
Q99758 | non-pleiotropic | VAR_023500 | p.Gln1591Pro | Disease | rs28936691 | - | Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] |
P21439 | pleiotropic | VAR_043079 | p.Pro95Ser | Non-Disease | - | - | - |
P21439 | pleiotropic | VAR_043094 | p.Asp564Gly | Disease | - | - | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] |
P21439 | pleiotropic | VAR_043082 | p.Phe165Ile | Disease | - | - | Gallbladder disease 1 (GBD1) [MIM:600803] |
P21439 | pleiotropic | VAR_043091 | p.Gly535Asp | Disease | - | - | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] |
P21439 | pleiotropic | VAR_043102 | p.Ala934Thr | Disease | rs61730509 | 0.0046 | Gallbladder disease 1 (GBD1) [MIM:600803] |
P21439 | pleiotropic | VAR_043095 | p.Arg590Gln | Non-Disease | rs45575636 | 0.0073 | - |
P21439 | pleiotropic | VAR_043081 | p.Arg150Lys | Disease | - | - | Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972] |
P21439 | pleiotropic | VAR_020223 | p.Leu238Val | Non-Disease | rs45596335 | 0.0009 | - |
P21439 | pleiotropic | VAR_043084 | p.Ser346Ile | Disease | - | - | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] |
P21439 | pleiotropic | VAR_043099 | p.Gly762Glu | Disease | - | - | Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972] |
P21439 | pleiotropic | VAR_043101 | p.Thr775Met | Non-Disease | - | - | - |
P21439 | pleiotropic | VAR_043093 | p.Leu556Arg | Disease | - | - | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] |
P21439 | pleiotropic | VAR_043103 | p.Gly983Ser | Disease | rs56187107 | - | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] |
P21439 | pleiotropic | VAR_043078 | p.Asp87Glu | Non-Disease | - | - | - |
P21439 | pleiotropic | VAR_030765 | p.Thr651Asn | Non-Disease | rs45476795 | 0.0014 | - |
P21439 | pleiotropic | VAR_043098 | p.Gly742Ser | Non-Disease | - | - | - |
P21439 | pleiotropic | VAR_043097 | p.Phe711Ser | Disease | - | - | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] |
P21439 | pleiotropic | VAR_043085 | p.Ile367Val | Non-Disease | - | - | - |
P21439 | pleiotropic | VAR_020225 | p.Arg652Gly | Non-Disease | rs2230028 | 0.1414 | - |
P21439 | pleiotropic | VAR_024359 | p.Arg788Gln | Non-Disease | rs8187801 | 0.023 | - |
P21439 | pleiotropic | VAR_043080 | p.Trp138Arg | Disease | - | - | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] |
P21439 | pleiotropic | VAR_030763 | p.Ile263Val | Non-Disease | rs45547936 | 0.0005 | - |
P21439 | pleiotropic | VAR_023503 | p.Ala546Asp | Disease | - | - | Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972] |
P21439 | pleiotropic | VAR_023502 | p.Ser320Phe | Disease | - | - | Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972] Gallbladder disease 1 (GBD1) [MIM:600803] |
P21439 | pleiotropic | VAR_023504 | p.Pro1168Ser | Disease | - | - | Gallbladder disease 1 (GBD1) [MIM:600803] |
P21439 | pleiotropic | VAR_043096 | p.Leu591Gln | Disease | - | - | Gallbladder disease 1 (GBD1) [MIM:600803] |
P21439 | pleiotropic | VAR_043086 | p.Glu395Gly | Disease | - | - | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] |
P21439 | pleiotropic | VAR_043088 | p.Val425Met | Disease | - | - | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] |