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 270 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q8TAB3 | non-pleiotropic | VAR_064486 | p.Asn340Ser | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_064846 | p.Pro561Arg | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_064485 | p.Ser276Pro | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_064488 | p.Thr404Ile | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_067477 | p.Asn232Ser | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_064845 | p.Asp341Glu | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_064492 | p.Arg1107Gly | Non-Disease | - | 0.0 | - |
Q8TAB3 | non-pleiotropic | VAR_067473 | p.Val72Gly | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_064491 | p.Arg958Gln | Non-Disease | - | - | - |
Q8TAB3 | non-pleiotropic | VAR_067478 | p.Asn234Ser | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_067476 | p.Val191Leu | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_067484 | p.Gly513Arg | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_064490 | p.Leu543Pro | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_064844 | p.Glu249Asp | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_064847 | p.Pro567Leu | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_064481 | p.Asp121Asn | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_067475 | p.Leu190Arg | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_046485 | p.Asn557Lys | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_067485 | p.Val642Met | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_064484 | p.Phe206Cys | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_067488 | p.Arg1107His | Non-Disease | rs200021840 | 0.0006 | - |
Q8TAB3 | non-pleiotropic | VAR_067486 | p.Arg980Cys | Non-Disease | rs3764758 | 0.0193 | - |
Q8TAB3 | non-pleiotropic | VAR_067472 | p.Leu25Pro | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_067489 | p.Asn1134His | Non-Disease | rs141816797 | 0.0067 | - |
Q8TAB3 | non-pleiotropic | VAR_064489 | p.Glu414Gln | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_067487 | p.Leu1094Val | Non-Disease | rs184545774 | 0.0006 | - |
Q8TAB3 | non-pleiotropic | VAR_064482 | p.Glu199Gln | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_067482 | p.Asp377Glu | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_067483 | p.Leu433Pro | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_064843 | p.Phe206Tyr | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
P49585 | non-pleiotropic | VAR_071087 | p.Phe191Leu | Disease | - | - | Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] |
P49585 | non-pleiotropic | VAR_071085 | p.Glu129Lys | Disease | - | - | Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] |
P49585 | non-pleiotropic | VAR_071083 | p.Ala99Thr | Disease | - | - | Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] |
P49585 | non-pleiotropic | VAR_071084 | p.Ala99Val | Disease | - | - | Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] |
P49585 | non-pleiotropic | VAR_071086 | p.Pro150Ala | Disease | - | - | Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] |
P49585 | non-pleiotropic | VAR_071088 | p.Arg223Ser | Disease | - | - | Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] |
P16499 | non-pleiotropic | VAR_025463 | p.Val277Ala | Non-Disease | - | - | - |
P16499 | non-pleiotropic | VAR_047730 | p.Ala145Thr | Non-Disease | rs35431421 | 0.0078 | - |
P16499 | non-pleiotropic | VAR_025462 | p.Asn216Ser | Non-Disease | rs10057110 | 0.0344 | - |
P16499 | non-pleiotropic | VAR_025460 | p.Arg102His | Disease | - | - | Retinitis pigmentosa 43 (RP43) [MIM:613810] |
P16499 | non-pleiotropic | VAR_025468 | p.Lys827Gln | Non-Disease | - | - | - |
P16499 | non-pleiotropic | VAR_025467 | p.Ser573Pro | Disease | - | - | Retinitis pigmentosa 43 (RP43) [MIM:613810] |
P16499 | non-pleiotropic | VAR_025466 | p.Gln569Lys | Disease | - | - | Retinitis pigmentosa 43 (RP43) [MIM:613810] |
P16499 | non-pleiotropic | VAR_047731 | p.Gln492His | Non-Disease | rs17711594 | 0.0026 | - |
P16499 | non-pleiotropic | VAR_025469 | p.Gly850Val | Non-Disease | rs138315990 | 0.0009 | - |
P16499 | non-pleiotropic | VAR_025465 | p.Val391Met | Non-Disease | rs61732059 | 0.0124 | - |
P16499 | non-pleiotropic | VAR_025461 | p.Arg102Ser | Disease | - | - | Retinitis pigmentosa 43 (RP43) [MIM:613810] |
P16499 | non-pleiotropic | VAR_006049 | p.Ser344Arg | Disease | - | - | Retinitis pigmentosa 43 (RP43) [MIM:613810] |
P16499 | non-pleiotropic | VAR_025464 | p.Pro293Leu | Non-Disease | rs114973968 | 0.0037 | - |
P35913 | pleiotropic | VAR_068361 | p.Arg100His | Disease | - | - | Retinitis pigmentosa 40 (RP40) [MIM:613801] |