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 188 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q96RY7 | non-pleiotropic | VAR_062098 | p.Ser561Asn | Non-Disease | rs8050974 | 0.0253 | - |
Q96RY7 | non-pleiotropic | VAR_071002 | p.Glu243Gly | Non-Disease | - | - | - |
Q96RY7 | non-pleiotropic | VAR_068527 | p.Gly522Glu | Disease | - | - | Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] |
Q96RY7 | non-pleiotropic | VAR_053401 | p.Arg621Gln | Non-Disease | rs11648609 | 0.0776 | - |
Q96RY7 | non-pleiotropic | VAR_071000 | p.Leu152Phe | Disease | - | - | Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] |
Q96RY7 | non-pleiotropic | VAR_068525 | p.Val292Met | Disease | - | - | Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] |
Q96RY7 | non-pleiotropic | VAR_070999 | p.Arg110His | Non-Disease | rs371077545 | 0.0004 | - |
Q96RY7 | non-pleiotropic | VAR_071003 | p.Glu267Gly | Disease | - | - | Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] |
Q96RY7 | non-pleiotropic | VAR_071007 | p.Pro1353Arg | Non-Disease | - | - | - |
Q96RY7 | non-pleiotropic | VAR_053400 | p.Ala451Val | Non-Disease | rs8060532 | 0.0253 | - |
Q96RY7 | non-pleiotropic | VAR_053397 | p.Arg279Pro | Non-Disease | rs4786350 | 0.0335 | - |
Q96RY7 | non-pleiotropic | VAR_068526 | p.Tyr311Cys | Disease | - | - | Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] |
Q96RY7 | non-pleiotropic | VAR_053402 | p.Pro670Ser | Non-Disease | rs34900355 | 0.0142 | - |
Q96RY7 | non-pleiotropic | VAR_068529 | p.Glu664Lys | Disease | - | - | Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] |
Q96RY7 | non-pleiotropic | VAR_071006 | p.Asp787Gly | Non-Disease | rs144938800 | 0.0014 | - |
Q96RY7 | non-pleiotropic | VAR_071005 | p.Leu514His | Non-Disease | rs150903791 | 0.0014 | - |
Q96RY7 | non-pleiotropic | VAR_053399 | p.Val398Ile | Non-Disease | rs34762152 | 0.0857 | - |
Q96RY7 | non-pleiotropic | VAR_071004 | p.Trp459Ser | Non-Disease | - | - | - |
Q96RY7 | non-pleiotropic | VAR_053403 | p.Ala1070Val | Non-Disease | rs2235638 | 0.0905 | - |
Q96RY7 | non-pleiotropic | VAR_068524 | p.Ile233Met | Disease | - | - | Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] |
Q96RY7 | non-pleiotropic | VAR_068523 | p.Gly212Arg | Disease | - | - | Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] |
Q96RY7 | non-pleiotropic | VAR_071001 | p.Pro161Thr | Non-Disease | - | - | - |
Q96RY7 | non-pleiotropic | VAR_053398 | p.Arg280Gln | Non-Disease | rs35404373 | 0.0138 | - |
Q96RY7 | non-pleiotropic | VAR_068528 | p.Arg576Gln | Disease | - | - | Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] |
Q9UG01 | non-pleiotropic | VAR_070960 | p.Arg1544Cys | Disease | - | - | Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630] |
Q9UG01 | non-pleiotropic | VAR_070959 | p.Leu1536Pro | Disease | - | - | Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630] |
Q9UG01 | non-pleiotropic | VAR_042581 | p.Arg953His | Non-Disease | rs704793 | 0.0041 | - |
Q9UG01 | non-pleiotropic | VAR_070956 | p.Arg296Trp | Disease | - | - | Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630] |
Q9UG01 | non-pleiotropic | VAR_070957 | p.Ile411Asn | Disease | - | - | Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630] |
Q9UG01 | non-pleiotropic | VAR_070961 | p.Cys1727Arg | Disease | - | - | Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630] |
Q9P2H3 | non-pleiotropic | VAR_035006 | p.His105Gln | Disease | - | - | Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263] |
Q9P2H3 | non-pleiotropic | VAR_035008 | p.Thr586Ser | Non-Disease | rs6778728 | 0.2562 | - |
Q9P2H3 | non-pleiotropic | VAR_035009 | p.Ala701Pro | Disease | - | - | Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263] |
P08069 | non-pleiotropic | VAR_041426 | p.Asn857Ser | Non-Disease | rs45611935 | 0.006 | - |
P08069 | non-pleiotropic | VAR_018856 | p.Arg605His | Non-Disease | rs45553041 | 0.0002 | - |
P08069 | non-pleiotropic | VAR_034892 | p.Lys145Asn | Disease | - | - | Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] |
P08069 | non-pleiotropic | VAR_034894 | p.Arg511Gln | Non-Disease | rs33958176 | 0.0009 | - |
P08069 | non-pleiotropic | VAR_041425 | p.Arg595His | Non-Disease | rs56248469 | 0.0002 | - |
P08069 | non-pleiotropic | VAR_034897 | p.Ala828Thr | Non-Disease | rs35224135 | 0.0002 | - |
P08069 | non-pleiotropic | VAR_034891 | p.Arg138Gln | Disease | - | - | Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] |
P08069 | non-pleiotropic | VAR_018855 | p.Val388Met | Non-Disease | rs45445894 | 0.0009 | - |
P08069 | non-pleiotropic | VAR_034896 | p.His808Arg | Non-Disease | rs34061581 | - | - |
P08069 | non-pleiotropic | VAR_034893 | p.Arg437His | Non-Disease | rs34516635 | 0.0009 | - |
P08069 | non-pleiotropic | VAR_041427 | p.Ala1338Thr | Non-Disease | rs34102392 | - | - |
P08069 | non-pleiotropic | VAR_034895 | p.Arg739Gln | Disease | - | - | Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] |
P38935 | non-pleiotropic | VAR_058505 | p.Arg581Ser | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_022326 | p.Leu361Pro | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_055225 | p.Ala75Thr | Non-Disease | rs2228206 | 0.0051 | - |
P38935 | non-pleiotropic | VAR_021900 | p.Glu928Lys | Non-Disease | rs2275996 | 0.0236 | - |
P38935 | non-pleiotropic | VAR_022338 | p.Arg637Cys | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |