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 211 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
O95970 | non-pleiotropic | VAR_015771 | p.Leu26Arg | Disease | - | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
O95970 | non-pleiotropic | VAR_058544 | p.Leu154Pro | Disease | - | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
O95970 | non-pleiotropic | VAR_015772 | p.Cys46Arg | Disease | - | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
O95970 | non-pleiotropic | VAR_058540 | p.Ile122Lys | Disease | - | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
O95970 | non-pleiotropic | VAR_058548 | p.Val432Glu | Disease | - | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
O95970 | non-pleiotropic | VAR_058539 | p.Ala110Asp | Disease | - | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
O95970 | non-pleiotropic | VAR_058538 | p.Cys42Arg | Disease | - | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
O95970 | non-pleiotropic | VAR_058547 | p.Ile298Thr | Disease | - | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
O95970 | non-pleiotropic | VAR_015774 | p.Phe318Cys | Disease | rs28939075 | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
O95970 | non-pleiotropic | VAR_058541 | p.Glu123Lys | Disease | - | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
O95970 | non-pleiotropic | VAR_058542 | p.Arg136Trp | Disease | - | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
O95970 | non-pleiotropic | VAR_058546 | p.Leu232Pro | Disease | - | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
O95970 | non-pleiotropic | VAR_015773 | p.Glu383Ala | Disease | rs28937874 | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
O95970 | non-pleiotropic | VAR_058545 | p.Cys200Arg | Disease | - | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
O95970 | non-pleiotropic | VAR_023008 | p.Cys42Gly | Disease | - | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
O95970 | non-pleiotropic | VAR_058543 | p.Ser145Arg | Disease | - | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
O95970 | non-pleiotropic | VAR_023009 | p.Ser473Leu | Disease | - | - | Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
P01229 | non-pleiotropic | VAR_015672 | p.Ala18Thr | Non-Disease | rs5030775 | - | - |
P01229 | non-pleiotropic | VAR_034098 | p.Met15Ile | Non-Disease | rs34247911 | 0.0046 | - |
P01229 | non-pleiotropic | VAR_015673 | p.Gly122Ser | Non-Disease | rs5030774 | 0.0009 | - |
P01229 | non-pleiotropic | VAR_003189 | p.Gln74Arg | Disease | rs5030773 | - | Hypogonadism LHB-related (HGON-LHB) [MIM:152780] |
P01229 | non-pleiotropic | VAR_014590 | p.Ile35Thr | Non-Disease | rs34349826 | - | - |
P01229 | non-pleiotropic | VAR_014589 | p.Trp28Arg | Non-Disease | rs1800447 | 0.0615 | - |
P22888 | pleiotropic | VAR_055922 | p.Asn291Ser | Non-Disease | rs12470652 | 0.0161 | - |
P22888 | pleiotropic | VAR_010154 | p.Cys131Arg | Disease | - | - | Luteinizing hormone resistance (LHR) [MIM:238320] |
P22888 | pleiotropic | VAR_003551 | p.Ser306Asn | Non-Disease | - | - | - |
P22888 | pleiotropic | VAR_010156 | p.Leu457Arg | Disease | - | - | Familial male precocious puberty (FMPP) [MIM:176410] |
P22888 | pleiotropic | VAR_062339 | p.Leu502Pro | Disease | - | - | Luteinizing hormone resistance (LHR) [MIM:238320] |
P22888 | pleiotropic | VAR_062338 | p.Leu368Pro | Disease | - | - | Familial male precocious puberty (FMPP) [MIM:176410] |
P22888 | pleiotropic | VAR_003563 | p.Ile625Lys | Disease | - | - | Luteinizing hormone resistance (LHR) [MIM:238320] |
P22888 | pleiotropic | VAR_003562 | p.Ser616Tyr | Disease | - | - | Luteinizing hormone resistance (LHR) [MIM:238320] |
P22888 | pleiotropic | VAR_010160 | p.Ile575Leu | Disease | - | - | Familial male precocious puberty (FMPP) [MIM:176410] |
P22888 | pleiotropic | VAR_003557 | p.Ala572Val | Disease | - | - | Familial male precocious puberty (FMPP) [MIM:176410] |
P22888 | pleiotropic | VAR_003552 | p.Glu354Lys | Disease | - | - | Luteinizing hormone resistance (LHR) [MIM:238320] |
P22888 | pleiotropic | VAR_010161 | p.Asp578Glu | Disease | - | - | Familial male precocious puberty (FMPP) [MIM:176410] |
P22888 | pleiotropic | VAR_003559 | p.Asp578Gly | Disease | - | - | Familial male precocious puberty (FMPP) [MIM:176410] |
P22888 | pleiotropic | VAR_003558 | p.Thr577Ile | Disease | - | - | Familial male precocious puberty (FMPP) [MIM:176410] |
P22888 | pleiotropic | VAR_010155 | p.Cys343Ser | Disease | - | - | Luteinizing hormone resistance (LHR) [MIM:238320] |
P22888 | pleiotropic | VAR_003550 | p.Asn284Ser | Non-Disease | - | - | - |
P22888 | pleiotropic | VAR_010158 | p.Cys543Arg | Disease | - | - | Luteinizing hormone resistance (LHR) [MIM:238320] |
P22888 | pleiotropic | VAR_003556 | p.Met571Ile | Disease | - | - | Familial male precocious puberty (FMPP) [MIM:176410] |
P22888 | pleiotropic | VAR_010159 | p.Asp564Gly | Disease | - | - | Familial male precocious puberty (FMPP) [MIM:176410] |
P22888 | pleiotropic | VAR_062337 | p.Ile152Thr | Disease | - | - | Luteinizing hormone resistance (LHR) [MIM:238320] |
P22888 | pleiotropic | VAR_003554 | p.Met398Thr | Disease | - | - | Familial male precocious puberty (FMPP) [MIM:176410] |
P22888 | pleiotropic | VAR_062336 | p.Val144Phe | Disease | rs121912539 | 0.0002 | Luteinizing hormone resistance (LHR) [MIM:238320] |
P22888 | pleiotropic | VAR_003553 | p.Ala373Val | Disease | - | - | Familial male precocious puberty (FMPP) [MIM:176410] |
P22888 | pleiotropic | VAR_060737 | p.Asn312Ser | Non-Disease | rs2293275 | 0.3655 | - |
P22888 | pleiotropic | VAR_010163 | p.Asp578Tyr | Disease | - | - | Familial male precocious puberty (FMPP) [MIM:176410] |
P22888 | pleiotropic | VAR_010157 | p.Ile542Leu | Disease | - | - | Familial male precocious puberty (FMPP) [MIM:176410] |
P22888 | pleiotropic | VAR_003555 | p.Ala568Val | Disease | - | - | Familial male precocious puberty (FMPP) [MIM:176410] |