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 51 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P02746 | non-pleiotropic | VAR_008541 | p.Gly42Asp | Disease | - | - | Complement component C1q deficiency (C1QD) [MIM:613652] |
P02747 | non-pleiotropic | VAR_008542 | p.Gly34Arg | Disease | - | - | Complement component C1q deficiency (C1QD) [MIM:613652] |
Q9BXJ0 | non-pleiotropic | VAR_032628 | p.Gln44Arg | Non-Disease | rs11538245 | - | - |
Q9BXJ0 | non-pleiotropic | VAR_032629 | p.Ser163Arg | Disease | - | - | Late-onset retinal degeneration (LORD) [MIM:605670] |
A6NGG8 | non-pleiotropic | VAR_065282 | p.Ala959Thr | Non-Disease | rs192350796 | 0.0005 | - |
A6NGG8 | non-pleiotropic | VAR_065281 | p.Arg955Gln | Non-Disease | rs184249075 | 0.0005 | - |
A6NGG8 | non-pleiotropic | VAR_042649 | p.Leu792Val | Non-Disease | rs17744093 | 0.1483 | - |
A6NGG8 | non-pleiotropic | VAR_065273 | p.Asp372Asn | Disease | rs201284350 | 0.0002 | Retinitis pigmentosa 54 (RP54) [MIM:613428] |
A6NGG8 | non-pleiotropic | VAR_042646 | p.Ser13Cys | Non-Disease | rs10084168 | 0.039 | - |
A6NGG8 | non-pleiotropic | VAR_042648 | p.Thr580Met | Non-Disease | rs10166913 | 0.1979 | - |
A6NGG8 | non-pleiotropic | VAR_065288 | p.Gly1247Ser | Non-Disease | rs187333111 | 0.0014 | - |
A6NGG8 | non-pleiotropic | VAR_065277 | p.Ala628Thr | Non-Disease | - | - | - |
A6NGG8 | non-pleiotropic | VAR_065272 | p.Arg320Cys | Non-Disease | - | - | - |
A6NGG8 | non-pleiotropic | VAR_065271 | p.Ser312Asn | Non-Disease | - | - | - |
A6NGG8 | non-pleiotropic | VAR_065267 | p.Glu227Lys | Non-Disease | rs114057537 | 0.0202 | - |
A6NGG8 | non-pleiotropic | VAR_065283 | p.Gln1020Arg | Non-Disease | - | - | - |
A6NGG8 | non-pleiotropic | VAR_065274 | p.Glu378Lys | Non-Disease | rs201900716 | 0.0005 | - |
A6NGG8 | non-pleiotropic | VAR_065279 | p.Cys688Tyr | Non-Disease | rs149601594 | 0.0041 | - |
A6NGG8 | non-pleiotropic | VAR_065278 | p.Ala648Pro | Non-Disease | - | - | - |
A6NGG8 | non-pleiotropic | VAR_042650 | p.Pro1254Leu | Non-Disease | rs1975713 | 0.0073 | - |
A6NGG8 | non-pleiotropic | VAR_063396 | p.Pro867Leu | Non-Disease | rs182248363 | 0.0014 | - |
A6NGG8 | non-pleiotropic | VAR_065276 | p.Val615Asp | Disease | rs140776870 | 0.013 | Retinitis pigmentosa 54 (RP54) [MIM:613428] |
A6NGG8 | non-pleiotropic | VAR_065285 | p.Ala1160Thr | Non-Disease | - | - | - |
A6NGG8 | non-pleiotropic | VAR_065269 | p.Ala252Asp | Non-Disease | rs77003681 | 0.0119 | - |
A6NGG8 | non-pleiotropic | VAR_065268 | p.Val247Ala | Non-Disease | rs77828062 | 0.011 | - |
A6NGG8 | non-pleiotropic | VAR_042647 | p.Lys421Arg | Non-Disease | rs17007544 | 0.1102 | - |
A6NGG8 | non-pleiotropic | VAR_065275 | p.Leu612Pro | Disease | rs200758183 | 0.0014 | Retinitis pigmentosa 54 (RP54) [MIM:613428] |
A6NGG8 | non-pleiotropic | VAR_065280 | p.Pro954Ser | Non-Disease | - | - | - |
A6NGG8 | non-pleiotropic | VAR_063395 | p.Ile201Phe | Disease | - | - | Retinitis pigmentosa 54 (RP54) [MIM:613428] |
A6NGG8 | non-pleiotropic | VAR_065286 | p.Arg1177Gln | Non-Disease | - | - | - |
A6NGG8 | non-pleiotropic | VAR_065270 | p.Arg258Ile | Non-Disease | rs116156338 | 0.011 | - |
P01024 | pleiotropic | VAR_020262 | p.Glu469Asp | Non-Disease | rs11569422 | 0.0124 | - |
P01024 | pleiotropic | VAR_063216 | p.Ala1094Val | Disease | - | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
P01024 | pleiotropic | VAR_063215 | p.Arg735Trp | Disease | rs117793540 | 0.0008 | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
P01024 | pleiotropic | VAR_029793 | p.His1601Asn | Non-Disease | rs1803225 | - | - |
P01024 | pleiotropic | VAR_001983 | p.Arg102Gly | Non-Disease | rs2230199 | 0.0978 | - |
P01024 | pleiotropic | VAR_001985 | p.Asp549Asn | Disease | - | - | Complement component 3 deficiency (C3D) [MIM:613779] |
P01024 | pleiotropic | VAR_001986 | p.Arg1320Gln | Disease | - | - | Complement component 3 deficiency (C3D) [MIM:613779] |
P01024 | pleiotropic | VAR_063218 | p.Cys1158Trp | Disease | - | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
P01024 | pleiotropic | VAR_019208 | p.Ile1367Thr | Non-Disease | rs11569541 | 0.0041 | - |
P01024 | pleiotropic | VAR_019207 | p.Gly1224Asp | Non-Disease | rs11569534 | 0.0087 | - |
P01024 | pleiotropic | VAR_001984 | p.Pro314Leu | Non-Disease | rs1047286 | 0.0859 | - |
P01024 | pleiotropic | VAR_063214 | p.Arg592Trp | Disease | - | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
P01024 | pleiotropic | VAR_019206 | p.Arg863Lys | Non-Disease | rs11569472 | - | - |
P01024 | pleiotropic | VAR_063654 | p.Phe603Val | Disease | - | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
P01024 | pleiotropic | VAR_063213 | p.Arg592Gln | Disease | - | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
P01024 | pleiotropic | VAR_063219 | p.Gln1161Lys | Disease | - | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
P01024 | pleiotropic | VAR_029792 | p.Gln1521Arg | Non-Disease | rs7256789 | - | - |
P01024 | pleiotropic | VAR_070941 | p.Lys155Gln | Disease | - | - | Macular degeneration, age-related, 9 (ARMD9) [MIM:611378] |
P01024 | pleiotropic | VAR_063655 | p.Arg1042Leu | Disease | - | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |