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 106 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9UPQ8 | non-pleiotropic | VAR_032851 | p.Cys99Ser | Disease | - | - | Congenital disorder of glycosylation 1M (CDG1M) [MIM:610768] |
Q9H3H5 | pleiotropic | VAR_068813 | p.Gly160Ser | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750] |
Q9H3H5 | pleiotropic | VAR_068812 | p.Leu120Met | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750] |
Q9H3H5 | pleiotropic | VAR_068815 | p.Val264Gly | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750] |
Q9H3H5 | pleiotropic | VAR_011391 | p.Ile393Val | Non-Disease | rs643788 | 0.4302 | - |
Q9H3H5 | pleiotropic | VAR_068811 | p.Val117Ile | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750] |
Q9H3H5 | pleiotropic | VAR_017243 | p.Tyr170Cys | Disease | rs28934876 | 0.0002 | Congenital disorder of glycosylation 1J (CDG1J) [MIM:608093] |
Q9H3H5 | pleiotropic | VAR_068810 | p.Met108Ile | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750] |
Q9H3H5 | pleiotropic | VAR_068814 | p.Gly192Ser | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750] |
O60762 | non-pleiotropic | VAR_070592 | p.Gly152Val | Disease | - | - | Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799] |
O60762 | non-pleiotropic | VAR_012341 | p.Arg92Gly | Disease | - | - | Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799] |
O60762 | non-pleiotropic | VAR_019841 | p.Ser248Pro | Disease | - | - | Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799] |
O94777 | non-pleiotropic | VAR_033895 | p.Thr76Ser | Non-Disease | rs7997 | 0.2948 | - |
O94777 | non-pleiotropic | VAR_069745 | p.Tyr23Cys | Disease | - | - | Congenital disorder of glycosylation 1U (CDG1U) [MIM:615042] |
Q9P2X0 | non-pleiotropic | VAR_062518 | p.Leu85Ser | Disease | - | - | Congenital disorder of glycosylation 1O (CDG1O) [MIM:612937] |
Q14117 | non-pleiotropic | VAR_002269 | p.Trp360Arg | Disease | rs121964924 | 0.0002 | Dihydropyrimidinase deficiency (DHPD) [MIM:222748] |
Q14117 | non-pleiotropic | VAR_002270 | p.Gly435Arg | Disease | - | - | Dihydropyrimidinase deficiency (DHPD) [MIM:222748] |
Q14117 | non-pleiotropic | VAR_002267 | p.Thr68Arg | Disease | - | - | Dihydropyrimidinase deficiency (DHPD) [MIM:222748] |
Q14117 | non-pleiotropic | VAR_002268 | p.Gln334Arg | Disease | rs121964923 | 0.0006 | Dihydropyrimidinase deficiency (DHPD) [MIM:222748] |
Q14117 | non-pleiotropic | VAR_002271 | p.Arg490Thr | Disease | - | - | Dihydropyrimidinase deficiency (DHPD) [MIM:222748] |
Q9UL01 | non-pleiotropic | VAR_034481 | p.Thr25Ile | Non-Disease | rs10485183 | 0.1653 | - |
Q9UL01 | non-pleiotropic | VAR_070911 | p.Ser268Leu | Disease | - | - | Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2) [MIM:615539] |
Q9UL01 | non-pleiotropic | VAR_053834 | p.Ile282Val | Non-Disease | rs34994230 | 0.0165 | - |
Q9UL01 | non-pleiotropic | VAR_053833 | p.Pro34Leu | Non-Disease | rs35548455 | 0.028 | - |
P15924 | pleiotropic | VAR_033862 | p.Ile305Phe | Non-Disease | rs17604693 | 0.0174 | - |
P15924 | pleiotropic | VAR_023815 | p.Arg1738Gln | Non-Disease | rs6929069 | 0.2218 | - |
P15924 | pleiotropic | VAR_023816 | p.Arg1775Ile | Disease | rs34738426 | 0.0002 | Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450] |
P15924 | pleiotropic | VAR_020468 | p.Tyr1512Cys | Non-Disease | rs2076299 | 0.1827 | - |
P15924 | pleiotropic | VAR_065696 | p.Arg1537Cys | Non-Disease | rs28763967 | 0.0055 | - |
P15924 | pleiotropic | VAR_023814 | p.Arg1255Lys | Disease | - | - | Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450] |
P15924 | pleiotropic | VAR_065697 | p.Glu1833Val | Non-Disease | rs78652302 | 0.0083 | - |
P15924 | pleiotropic | VAR_065695 | p.Asn1526Lys | Non-Disease | rs28763966 | 0.0432 | - |
P15924 | pleiotropic | VAR_015402 | p.Ser299Arg | Disease | rs121912992 | 0.0004 | Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450] |
P15924 | pleiotropic | VAR_015570 | p.Arg2366Cys | Disease | rs28931610 | - | Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655] |
P15924 | pleiotropic | VAR_015569 | p.Asn287Lys | Disease | - | - | Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655] |
P15924 | pleiotropic | VAR_065694 | p.Ala1505Val | Non-Disease | - | - | - |
P15924 | pleiotropic | VAR_065693 | p.Ile445Val | Disease | - | - | Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450] |
Q9Y4J8 | non-pleiotropic | VAR_026744 | p.Pro121Leu | Disease | - | - | Left ventricular non-compaction 1 (LVNC1) [MIM:604169] |
Q9Y4J8 | non-pleiotropic | VAR_055320 | p.Ala180Glu | Non-Disease | rs1048081 | - | - |
Q9NRD8 | non-pleiotropic | VAR_064619 | p.Gly1518Ser | Disease | - | - | Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200] |
Q9NRD8 | non-pleiotropic | VAR_061177 | p.His678Arg | Non-Disease | rs57659670 | 0.1501 | - |
Q9NRD8 | non-pleiotropic | VAR_025324 | p.Pro138Leu | Non-Disease | rs2001616 | 0.219 | - |
Q9NRD8 | non-pleiotropic | VAR_025323 | p.Gln36His | Disease | - | - | Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200] |
Q9NRD8 | non-pleiotropic | VAR_047075 | p.Ser1067Leu | Non-Disease | rs269868 | 0.2452 | - |
Q9NRD8 | non-pleiotropic | VAR_025325 | p.Arg376Trp | Disease | - | - | Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200] |
Q16828 | non-pleiotropic | VAR_069943 | p.Phe77Ile | Disease | - | - | Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269] |
Q16828 | non-pleiotropic | VAR_069946 | p.Thr346Met | Disease | rs146089505 | 0.0002 | Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269] |
Q16828 | non-pleiotropic | VAR_051751 | p.Asn313Ile | Non-Disease | rs12828557 | 0.0002 | - |
Q16828 | non-pleiotropic | VAR_015113 | p.Val114Leu | Non-Disease | rs2279574 | 0.4922 | - |
Q16828 | non-pleiotropic | VAR_069944 | p.Ser182Phe | Disease | - | - | Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269] |