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 278 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9BXM7 | non-pleiotropic | VAR_046599 | p.Glu417Gly | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_046571 | p.Gln115Leu | Non-Disease | rs148871409 | 0.0239 | - |
Q9BXM7 | non-pleiotropic | VAR_046602 | p.Ile442Thr | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_062774 | p.Ala280Thr | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_046575 | p.Ala168Pro | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_062777 | p.Pro399Leu | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_046568 | p.Cys92Phe | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_046586 | p.Arg276Gln | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_018994 | p.Gly309Asp | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_041017 | p.Ser477Thr | Non-Disease | rs34416410 | - | - |
Q9BXM7 | non-pleiotropic | VAR_041015 | p.Met341Ile | Non-Disease | rs35813094 | 0.0002 | - |
Q9BXM7 | non-pleiotropic | VAR_046577 | p.Pro196Leu | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_046597 | p.Gly395Val | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_046604 | p.Leu461Ser | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_046567 | p.Arg68Pro | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_046596 | p.Cys388Arg | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_046582 | p.Thr257Ile | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_046605 | p.Arg464His | Disease | - | - | Parkinson disease 6 (PARK6) [MIM:605909] |
Q9BXM7 | non-pleiotropic | VAR_046572 | p.Ala124Val | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_046570 | p.Ile111Ser | Non-Disease | - | - | - |
Q9BXM7 | non-pleiotropic | VAR_046606 | p.Glu476Lys | Non-Disease | rs115477764 | 0.0087 | - |
O60331 | non-pleiotropic | VAR_036996 | p.Asp253Asn | Disease | - | - | Lethal congenital contracture syndrome 3 (LCCS3) [MIM:611369] |
Q9BZ71 | non-pleiotropic | VAR_062132 | p.Pro17Ser | Non-Disease | rs28493751 | 0.0583 | - |
Q9BZ71 | non-pleiotropic | VAR_046787 | p.Gln626His | Disease | rs76024428 | 0.0014 | Cone-rod dystrophy 5 (CORD5) [MIM:600977] |
Q9BZ71 | non-pleiotropic | VAR_026014 | p.Ala80Thr | Non-Disease | rs3809835 | 0.287 | - |
Q99697 | pleiotropic | VAR_035027 | p.Arg108His | Disease | - | - | Ring dermoid of cornea (RDC) [MIM:180550] |
Q99697 | pleiotropic | VAR_058735 | p.Pro110Leu | Disease | - | - | Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] |
Q99697 | pleiotropic | VAR_003764 | p.Thr114Pro | Disease | - | - | Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] |
Q99697 | pleiotropic | VAR_058740 | p.Asn154Thr | Disease | - | - | Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] |
Q99697 | pleiotropic | VAR_003766 | p.Arg137Pro | Disease | - | - | Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] |
Q99697 | pleiotropic | VAR_058737 | p.Lys134Glu | Disease | - | - | Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] |
Q99697 | pleiotropic | VAR_058738 | p.Arg136Cys | Disease | - | - | Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] |
Q99697 | pleiotropic | VAR_003765 | p.Arg115His | Disease | - | - | Iridogoniodysgenesis 2 (IRID2) [MIM:137600] |
Q99697 | pleiotropic | VAR_003763 | p.Leu100Gln | Disease | - | - | Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] |
Q99697 | pleiotropic | VAR_035029 | p.Val129Leu | Disease | - | - | Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] |
Q99697 | pleiotropic | VAR_003762 | p.Arg130Trp | Disease | - | - | Iridogoniodysgenesis 2 (IRID2) [MIM:137600] |
Q99697 | pleiotropic | VAR_058739 | p.Leu151Val | Disease | - | - | Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] |
Q99697 | pleiotropic | VAR_058736 | p.Pro110Arg | Disease | - | - | Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] |
P98161 | non-pleiotropic | VAR_005539 | p.Val3008Leu | Disease | - | - | Polycystic kidney disease 1 (PKD1) [MIM:173900] |
P98161 | non-pleiotropic | VAR_010091 | p.Thr3510Met | Disease | rs45478794 | 0.0383 | Polycystic kidney disease 1 (PKD1) [MIM:173900] |
P98161 | non-pleiotropic | VAR_058771 | p.Arg739Gln | Non-Disease | rs40433 | 0.0927 | - |
P98161 | non-pleiotropic | VAR_058783 | p.Ala1926Val | Non-Disease | - | - | - |
P98161 | non-pleiotropic | VAR_005538 | p.Ile2826Thr | Disease | - | - | Polycystic kidney disease 1 (PKD1) [MIM:173900] |
P98161 | non-pleiotropic | VAR_058797 | p.Pro2802Leu | Disease | - | - | Polycystic kidney disease 1 (PKD1) [MIM:173900] |
P98161 | non-pleiotropic | VAR_011054 | p.Val2782Met | Non-Disease | - | - | - |
P98161 | non-pleiotropic | VAR_058778 | p.Thr1649Met | Non-Disease | - | - | - |
P98161 | non-pleiotropic | VAR_064384 | p.Leu727Arg | Disease | - | - | Polycystic kidney disease 1 (PKD1) [MIM:173900] |
P98161 | non-pleiotropic | VAR_011070 | p.Leu3852Pro | Disease | - | - | Polycystic kidney disease 1 (PKD1) [MIM:173900] |
P98161 | non-pleiotropic | VAR_058767 | p.Pro572Ser | Non-Disease | rs149022148 | 0.039 | - |
P98161 | non-pleiotropic | VAR_010093 | p.Ser3562Asn | Non-Disease | - | - | - |