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 208 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P05783 | non-pleiotropic | VAR_023055 | p.Ser230Thr | Non-Disease | rs58472472 | 0.0016 | - |
P05783 | non-pleiotropic | VAR_023057 | p.Gly340Arg | Disease | - | - | Cirrhosis (CIRRH) [MIM:215600] |
P05783 | non-pleiotropic | VAR_023054 | p.Thr103Ala | Disease | rs61136606 | - | Cirrhosis (CIRRH) [MIM:215600] |
P05783 | non-pleiotropic | VAR_003852 | p.His128Leu | Disease | rs57758506 | - | Cirrhosis (CIRRH) [MIM:215600] |
P35908 | non-pleiotropic | VAR_003867 | p.Glu487Lys | Disease | rs61726449 | - | Ichthyosis bullosa of Siemens (IBS) [MIM:146800] |
P35908 | non-pleiotropic | VAR_009185 | p.Asn186Tyr | Disease | rs61726454 | - | Ichthyosis bullosa of Siemens (IBS) [MIM:146800] |
P35908 | non-pleiotropic | VAR_009186 | p.Glu476Lys | Disease | rs56829062 | - | Ichthyosis bullosa of Siemens (IBS) [MIM:146800] |
P35908 | non-pleiotropic | VAR_058293 | p.Ser101Gly | Non-Disease | rs2634041 | 0.3889 | - |
P35908 | non-pleiotropic | VAR_031082 | p.Glu465Asp | Disease | - | - | Ichthyosis bullosa of Siemens (IBS) [MIM:146800] |
P35908 | non-pleiotropic | VAR_058294 | p.Gly219Asp | Non-Disease | rs638043 | 0.0849 | - |
P35908 | non-pleiotropic | VAR_017829 | p.Asn186Lys | Disease | rs61726457 | - | Ichthyosis bullosa of Siemens (IBS) [MIM:146800] |
P35908 | non-pleiotropic | VAR_031086 | p.Glu488Lys | Disease | rs61726452 | - | Ichthyosis bullosa of Siemens (IBS) [MIM:146800] |
P35908 | non-pleiotropic | VAR_009187 | p.Thr479Pro | Disease | rs61726453 | - | Ichthyosis bullosa of Siemens (IBS) [MIM:146800] |
P35908 | non-pleiotropic | VAR_010514 | p.Ile182Asn | Disease | rs61622714 | - | Ichthyosis bullosa of Siemens (IBS) [MIM:146800] |
P35908 | non-pleiotropic | VAR_010515 | p.Asn186Asp | Disease | - | - | Ichthyosis bullosa of Siemens (IBS) [MIM:146800] |
P35908 | non-pleiotropic | VAR_031083 | p.Glu465Lys | Disease | - | - | Ichthyosis bullosa of Siemens (IBS) [MIM:146800] |
P35908 | non-pleiotropic | VAR_031084 | p.Glu476Val | Disease | rs60537449 | - | Ichthyosis bullosa of Siemens (IBS) [MIM:146800] |
P35908 | non-pleiotropic | VAR_031085 | p.Ile477Asn | Disease | - | - | Ichthyosis bullosa of Siemens (IBS) [MIM:146800] |
P35908 | non-pleiotropic | VAR_003866 | p.Glu487Asp | Disease | rs61726450 | - | Ichthyosis bullosa of Siemens (IBS) [MIM:146800] |
P35908 | non-pleiotropic | VAR_010516 | p.Leu484Pro | Disease | rs61726451 | - | Ichthyosis bullosa of Siemens (IBS) [MIM:146800] |
P35908 | non-pleiotropic | VAR_003865 | p.Gln181Pro | Disease | - | - | Ichthyosis bullosa of Siemens (IBS) [MIM:146800] |
P12035 | non-pleiotropic | VAR_031327 | p.Arg503Pro | Disease | rs60410063 | - | Corneal dystrophy, Meesmann (MECD) [MIM:122100] |
P12035 | non-pleiotropic | VAR_061297 | p.Gly44Ala | Non-Disease | rs28721426 | 0.1446 | - |
P12035 | non-pleiotropic | VAR_003868 | p.Glu509Lys | Disease | rs57872071 | - | Corneal dystrophy, Meesmann (MECD) [MIM:122100] |
P12035 | non-pleiotropic | VAR_056023 | p.Arg375Gly | Non-Disease | rs3887954 | 0.4353 | - |
P19013 | non-pleiotropic | VAR_016038 | p.Glu449Lys | Disease | - | - | White sponge nevus 1 (WSN1) [MIM:193900] |
P19013 | non-pleiotropic | VAR_003869 | p.Ala72Val | Non-Disease | - | 0.1896 | - |
P02538 | non-pleiotropic | VAR_017075 | p.Phe174Val | Disease | rs28933087 | - | Pachyonychia congenita 1 (PC1) [MIM:167200] |
P02538 | non-pleiotropic | VAR_017077 | p.Glu472Lys | Disease | rs60554162 | - | Pachyonychia congenita 1 (PC1) [MIM:167200] |
P02538 | non-pleiotropic | VAR_017076 | p.Leu469Arg | Disease | rs57052654 | - | Pachyonychia congenita 1 (PC1) [MIM:167200] |
P02538 | non-pleiotropic | VAR_021264 | p.Asn21Ser | Non-Disease | rs17845411 | 0.292 | - |
P02538 | non-pleiotropic | VAR_035030 | p.Gly111Asp | Non-Disease | rs681063 | - | - |
P04259 | non-pleiotropic | VAR_023062 | p.Glu472Lys | Disease | rs60627726 | - | Pachyonychia congenita 2 (PC2) [MIM:167210] |
P04259 | non-pleiotropic | VAR_021265 | p.Asn21Ser | Non-Disease | rs428894 | 0.3949 | - |
P04259 | non-pleiotropic | VAR_021267 | p.Ile365Val | Non-Disease | rs437014 | 0.4862 | - |
P04259 | non-pleiotropic | VAR_021266 | p.Asn227Ser | Non-Disease | rs652423 | 0.3526 | - |
Q7RTS7 | pleiotropic | VAR_038096 | p.Asn165Lys | Non-Disease | rs11170177 | 0.1042 | - |
Q7RTS7 | pleiotropic | VAR_038097 | p.Glu271Asp | Non-Disease | rs670741 | 0.2208 | - |
Q7RTS7 | pleiotropic | VAR_061300 | p.Glu424Lys | Non-Disease | rs57711382 | 0.011 | - |
Q7RTS7 | pleiotropic | VAR_049806 | p.Leu178Gln | Non-Disease | rs11170176 | 0.2089 | - |
Q7RTS7 | pleiotropic | VAR_065951 | p.Asp482Asn | Disease | - | - | Hypotrichosis 3 (HYPT3) [MIM:613981] |
Q7RTS7 | pleiotropic | VAR_063587 | p.Asn148Lys | Disease | - | - | Woolly hair autosomal dominant (ADWH) [MIM:194300] |
Q7RTS7 | pleiotropic | VAR_061299 | p.Arg392Gln | Non-Disease | rs57387512 | 0.0069 | - |
O95678 | non-pleiotropic | VAR_038102 | p.Arg209Gln | Non-Disease | rs2232390 | 0.0018 | - |
O95678 | non-pleiotropic | VAR_038103 | p.Glu242Gly | Non-Disease | rs2232393 | 0.0083 | - |
O95678 | non-pleiotropic | VAR_038107 | p.Arg432Cys | Non-Disease | rs2232406 | 0.0101 | - |
O95678 | non-pleiotropic | VAR_038108 | p.Ser485Arg | Non-Disease | rs298104 | 0.303 | - |
O95678 | non-pleiotropic | VAR_038098 | p.Arg39Cys | Non-Disease | rs2232384 | - | - |
O95678 | non-pleiotropic | VAR_038104 | p.Glu337Lys | Disease | rs2232398 | 0.0038 | Loose anagen hair syndrome (LAHS) [MIM:600628] |
O95678 | non-pleiotropic | VAR_038101 | p.Ala161Thr | Non-Disease | rs2232387 | 0.1345 | - |