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
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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 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]