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.

Refine Search

UniProtID
Disease name
Protein type
Variant type
Use data from

Show per page.

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 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 -