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 53 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
O00555 | pleiotropic | VAR_043837 | p.Arg1661His | Disease | rs121908216 | - | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_001493 | p.Val714Ala | Disease | rs121908213 | - | Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] |
O00555 | pleiotropic | VAR_043826 | p.Arg583Gln | Disease | rs121908217 | - | Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] |
O00555 | pleiotropic | VAR_043841 | p.Glu1756Lys | Disease | rs121908226 | - | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_043821 | p.Ser218Leu | Disease | rs121908225 | - | Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] |
O00555 | pleiotropic | VAR_043838 | p.Arg1667Trp | Disease | rs121908220 | - | Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] |
O00555 | pleiotropic | VAR_063692 | p.Arg1679Cys | Disease | rs121908243 | - | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_043820 | p.Arg195Lys | Disease | rs121908222 | - | Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] |
O00555 | pleiotropic | VAR_014461 | p.Glu1015Lys | Non-Disease | rs16024 | 0.0018 | - |
O00555 | pleiotropic | VAR_043834 | p.Gly1482Arg | Disease | rs121908232 | - | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_001492 | p.Thr666Met | Disease | rs121908212 | - | Episodic ataxia 2 (EA2) [MIM:108500] Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] |
O00555 | pleiotropic | VAR_063693 | p.Cys1869Arg | Disease | rs121908244 | - | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_043829 | p.Lys1335Glu | Disease | rs121908223 | - | Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] |
O00555 | pleiotropic | VAR_063690 | p.Pro897Arg | Disease | rs121908242 | 0.0002 | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_043822 | p.His253Tyr | Disease | rs121908228 | - | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_014458 | p.Pro914Ser | Non-Disease | rs16020 | 0.0078 | - |
O00555 | pleiotropic | VAR_043830 | p.Arg1346Gln | Disease | rs121908230 | - | Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] |
O00555 | pleiotropic | VAR_043839 | p.Trp1683Arg | Disease | rs121908221 | - | Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] |
O00555 | pleiotropic | VAR_043842 | p.Arg2135Cys | Disease | rs121908235 | 0.0004 | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_043831 | p.Tyr1384Cys | Disease | rs121908219 | - | Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] |
O00555 | pleiotropic | VAR_014456 | p.Ala21Val | Non-Disease | rs15999 | 0.0032 | - |
O00555 | pleiotropic | VAR_014462 | p.Gly1105Ser | Non-Disease | rs16027 | 0.0684 | - |
O00555 | pleiotropic | VAR_001494 | p.Ile1810Leu | Disease | rs121908214 | - | Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] |
O00555 | pleiotropic | VAR_043840 | p.His1736Leu | Disease | rs121908229 | - | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_043835 | p.Phe1490Ser | Disease | rs121908233 | - | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_001491 | p.Arg192Gln | Disease | rs121908211 | - | Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] |
O00555 | pleiotropic | VAR_063691 | p.Arg1664Gln | Disease | rs121908247 | - | Spinocerebellar ataxia 6 (SCA6) [MIM:183086] |
O00555 | pleiotropic | VAR_014459 | p.Glu918Asp | Non-Disease | rs16022 | 0.1129 | - |
O00555 | pleiotropic | VAR_043836 | p.Val1493Ile | Disease | rs121908234 | - | Episodic ataxia 2 (EA2) [MIM:108500] |
Q13936 | pleiotropic | VAR_026741 | p.Gly402Ser | Disease | - | - | Timothy syndrome (TS) [MIM:601005] |
Q13936 | pleiotropic | VAR_059224 | p.Met1869Val | Non-Disease | rs10774053 | 0.2294 | - |
Q13936 | pleiotropic | VAR_001495 | p.Ala752Thr | Non-Disease | - | - | - |
Q13936 | pleiotropic | VAR_026742 | p.Gly406Arg | Disease | - | - | Timothy syndrome (TS) [MIM:601005] |
Q13936 | pleiotropic | VAR_044040 | p.Gly490Arg | Disease | - | - | Brugada syndrome 3 (BRGDA3) [MIM:611875] |
Q13936 | pleiotropic | VAR_044039 | p.Ala39Val | Disease | - | - | Brugada syndrome 3 (BRGDA3) [MIM:611875] |
Q13936 | pleiotropic | VAR_001496 | p.Ala2169Thr | Non-Disease | - | - | - |
Q13936 | pleiotropic | VAR_045988 | p.Ile391Leu | Non-Disease | rs1051356 | - | - |
Q13936 | pleiotropic | VAR_061102 | p.Lys1893Arg | Non-Disease | rs10774054 | - | - |
Q13936 | pleiotropic | VAR_059223 | p.Pro1868Leu | Non-Disease | rs10848683 | 0.3309 | - |
Q13936 | pleiotropic | VAR_045987 | p.Gln84Arg | Non-Disease | rs1051345 | - | - |
Q01668 | non-pleiotropic | VAR_061103 | p.Asp2097Asn | Non-Disease | rs41276455 | 0.0005 | - |
Q01668 | non-pleiotropic | VAR_070868 | p.Gly403Asp | Disease | - | - | Primary aldosteronism, seizures, and neurologic abnormalities (PASNA) [MIM:615474] |
Q01668 | non-pleiotropic | VAR_070869 | p.Ile750Met | Disease | - | - | Primary aldosteronism, seizures, and neurologic abnormalities (PASNA) [MIM:615474] |
Q13698 | pleiotropic | VAR_001501 | p.Arg1239Gly | Disease | rs28930069 | - | Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] |
Q13698 | pleiotropic | VAR_046970 | p.Ala69Gly | Non-Disease | rs12406479 | 0.023 | - |
Q13698 | pleiotropic | VAR_001500 | p.Arg1086His | Disease | rs1800559 | - | Malignant hyperthermia 5 (MHS5) [MIM:601887] |
Q13698 | pleiotropic | VAR_054954 | p.Arg900Ser | Disease | - | - | Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] |
Q13698 | pleiotropic | VAR_001499 | p.Arg528His | Disease | - | - | Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] |
Q13698 | pleiotropic | VAR_054953 | p.Arg528Gly | Disease | - | - | Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] |
Q13698 | pleiotropic | VAR_001503 | p.Arg1539Cys | Non-Disease | rs3850625 | 0.0712 | - |