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 277 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
O00459 | non-pleiotropic | VAR_030680 | p.Ser313Pro | Non-Disease | rs1011320 | 0.045 | - |
Q8WYR1 | non-pleiotropic | VAR_067052 | p.Pro629Ser | Disease | rs61761068 | 0.0098 | Ataxia-oculomotor apraxia 3 (AOA3) [MIM:615217] |
Q9Y2I7 | non-pleiotropic | VAR_063408 | p.Gln995Leu | Non-Disease | rs893254 | 0.0849 | - |
Q9Y2I7 | non-pleiotropic | VAR_057098 | p.Ser1033Ala | Non-Disease | rs999890 | 0.0918 | - |
Q9Y2I7 | non-pleiotropic | VAR_063409 | p.Thr998Ser | Non-Disease | rs893253 | 0.0638 | - |
Q9Y2I7 | non-pleiotropic | VAR_025309 | p.Lys1103Arg | Disease | - | - | Corneal dystrophy, fleck (CFD) [MIM:121850] |
Q9Y2I7 | non-pleiotropic | VAR_063407 | p.Leu932Ser | Non-Disease | rs2363468 | 0.0615 | - |
Q9Y2I7 | non-pleiotropic | VAR_057097 | p.Met617Val | Non-Disease | rs16840913 | 0.023 | - |
Q9Y2I7 | non-pleiotropic | VAR_063406 | p.Ser696Asn | Non-Disease | rs10932258 | 0.0064 | - |
Q9Y2I7 | non-pleiotropic | VAR_057099 | p.Arg1858Gln | Non-Disease | rs2289170 | 0.0018 | - |
Q9Y2I7 | non-pleiotropic | VAR_063410 | p.Gln1183Lys | Non-Disease | rs1529979 | 0.062 | - |
Q9BXM7 | non-pleiotropic | VAR_041016 | p.Cys377Phe | Non-Disease | rs34203620 | - | - |
Q9BXM7 | non-pleiotropic | VAR_046587 | p.Arg279His | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_046592 | p.Pro322Leu | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_046600 | p.Pro425Ser | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_046578 | p.Ala217Asp | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_046566 | p.Leu67Phe | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_046579 | p.Glu231Gly | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_041010 | p.Leu148Trp | Non-Disease | rs56297806 | - | - |
Q9BXM7 | non-pleiotropic | VAR_062778 | p.Arg407Gln | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_046580 | p.Asn235Ile | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_041012 | p.Pro209Leu | Non-Disease | rs34677717 | 0.0005 | - |
Q9BXM7 | non-pleiotropic | VAR_046581 | p.Glu240Lys | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_041014 | p.Ala339Thr | Non-Disease | rs55831733 | 0.0009 | - |
Q9BXM7 | non-pleiotropic | VAR_046589 | p.Thr313Met | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_046576 | p.Lys186Asn | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_046573 | p.Thr145Met | Non-Disease | rs45604240 | - | - |
Q9BXM7 | non-pleiotropic | VAR_046583 | p.Arg263Gly | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_046594 | p.Asp362His | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_018996 | p.Asn521Thr | Non-Disease | rs1043424 | 0.2805 | - |
Q9BXM7 | non-pleiotropic | VAR_046609 | p.Asp525Asn | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_046593 | p.Leu347Pro | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_046595 | p.Ala383Thr | Non-Disease | rs45515602 | 0.0 | - |
Q9BXM7 | non-pleiotropic | VAR_046598 | p.Gly411Ser | Non-Disease | rs45478900 | 0.0005 | - |
Q9BXM7 | non-pleiotropic | VAR_046611 | p.Ala537Thr | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_046590 | p.Val317Ile | Non-Disease | rs200949139 | 0.0005 | - |
Q9BXM7 | non-pleiotropic | VAR_062779 | p.Gly409Val | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_062775 | p.Leu369Pro | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_064344 | p.Gln126Pro | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_062776 | p.Gly386Ala | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_062773 | p.Cys125Gly | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_046607 | p.Leu489Pro | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_046588 | p.Pro296Leu | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_046584 | p.Leu268Val | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_041011 | p.Pro196Ser | Non-Disease | rs35802484 | 0.0005 | - |
Q9BXM7 | non-pleiotropic | VAR_046585 | p.His271Gln | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_046569 | p.Arg98Trp | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_018995 | p.Ala340Thr | Non-Disease | rs3738136 | 0.101 | - |
Q9BXM7 | non-pleiotropic | VAR_046591 | p.Met318Leu | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_018993 | p.Pro305Leu | Non-Disease | rs7349186 | - | - |