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 272 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P08559 | pleiotropic | VAR_004957 | p.Thr231Ala | Disease | - | - | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |
P08559 | pleiotropic | VAR_021053 | p.Tyr243Asn | Disease | - | - | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |
P08559 | pleiotropic | VAR_050436 | p.Glu333Asp | Non-Disease | rs2228067 | 0.0012 | - |
P08559 | pleiotropic | VAR_004955 | p.Met210Val | Disease | - | - | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |
P08559 | pleiotropic | VAR_004951 | p.Gly162Arg | Disease | - | - | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |
P08559 | pleiotropic | VAR_004953 | p.Ala199Thr | Disease | - | - | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |
P08559 | pleiotropic | VAR_004949 | p.Arg72Cys | Disease | - | - | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] |
P11177 | non-pleiotropic | VAR_004967 | p.Leu31Val | Non-Disease | - | - | - |
P11177 | non-pleiotropic | VAR_030954 | p.Tyr132Cys | Disease | rs28935769 | - | Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111] |
P11177 | non-pleiotropic | VAR_021058 | p.Pro344Ser | Disease | rs28933391 | - | Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111] |
Q15120 | non-pleiotropic | VAR_070081 | p.Lys114Thr | Non-Disease | rs146331370 | - | - |
Q15120 | non-pleiotropic | VAR_070082 | p.Arg158His | Disease | - | - | Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6) [MIM:300905] |
Q15120 | non-pleiotropic | VAR_070083 | p.Tyr334Ser | Non-Disease | - | - | - |
Q5T2R2 | non-pleiotropic | VAR_034879 | p.Asp308Glu | Disease | - | - | Coenzyme Q10 deficiency, primary, 2 (COQ10D2) [MIM:614651] |
Q86YH6 | non-pleiotropic | VAR_049645 | p.Phe3Leu | Non-Disease | rs3734675 | 0.0326 | - |
Q86YH6 | non-pleiotropic | VAR_055398 | p.Ser382Leu | Disease | - | - | Coenzyme Q10 deficiency, primary, 3 (COQ10D3) [MIM:614652] |
P52945 | non-pleiotropic | VAR_009309 | p.Cys18Arg | Disease | - | - | Maturity-onset diabetes of the young 4 (MODY4) [MIM:606392] |
P52945 | non-pleiotropic | VAR_009312 | p.Arg197His | Disease | - | - | Maturity-onset diabetes of the young 4 (MODY4) [MIM:606392] |
P52945 | non-pleiotropic | VAR_009310 | p.Gln59Leu | Disease | - | - | Maturity-onset diabetes of the young 4 (MODY4) [MIM:606392] |
P01213 | non-pleiotropic | VAR_064913 | p.Arg138Ser | Disease | - | - | Spinocerebellar ataxia 23 (SCA23) [MIM:610245] |
P01213 | non-pleiotropic | VAR_064914 | p.Leu211Ser | Disease | - | - | Spinocerebellar ataxia 23 (SCA23) [MIM:610245] |
P01213 | non-pleiotropic | VAR_064916 | p.Arg215Cys | Disease | - | - | Spinocerebellar ataxia 23 (SCA23) [MIM:610245] |
P01213 | non-pleiotropic | VAR_064915 | p.Arg212Trp | Disease | rs201486601 | 0.0002 | Spinocerebellar ataxia 23 (SCA23) [MIM:610245] |
P12955 | non-pleiotropic | VAR_014723 | p.Leu435Phe | Non-Disease | rs17570 | 0.2952 | - |
P12955 | non-pleiotropic | VAR_011615 | p.Gly278Asp | Disease | - | - | Prolidase deficiency (PD) [MIM:170100] |
P12955 | non-pleiotropic | VAR_004404 | p.Asp276Asn | Disease | - | - | Prolidase deficiency (PD) [MIM:170100] |
P12955 | non-pleiotropic | VAR_051574 | p.Arg388His | Non-Disease | rs2230062 | 0.0248 | - |
P12955 | non-pleiotropic | VAR_004405 | p.Gly448Arg | Disease | - | - | Prolidase deficiency (PD) [MIM:170100] |
P12955 | non-pleiotropic | VAR_011614 | p.Arg184Gln | Disease | - | - | Prolidase deficiency (PD) [MIM:170100] |
O15055 | non-pleiotropic | VAR_051575 | p.Ala5Ser | Non-Disease | rs35572922 | 0.0028 | - |
O15055 | non-pleiotropic | VAR_051578 | p.Phe949Tyr | Non-Disease | rs35998480 | - | - |
O15055 | non-pleiotropic | VAR_051576 | p.Val729Ile | Non-Disease | rs4429421 | 0.0078 | - |
O15055 | non-pleiotropic | VAR_029080 | p.Ser662Gly | Disease | - | - | Advanced sleep phase syndrome, familial, 1 (FASPS1) [MIM:604348] |
O15055 | non-pleiotropic | VAR_051577 | p.Val903Ile | Non-Disease | rs35333999 | 0.0225 | - |
O15055 | non-pleiotropic | VAR_024558 | p.Gly1244Glu | Non-Disease | rs934945 | 0.1882 | - |
O43933 | pleiotropic | VAR_048113 | p.Ile640Arg | Non-Disease | rs4559173 | - | - |
O43933 | pleiotropic | VAR_034376 | p.Ile696Met | Non-Disease | rs35996821 | 0.0234 | - |
O43933 | pleiotropic | VAR_058379 | p.Arg948Gln | Non-Disease | - | - | - |
O43933 | pleiotropic | VAR_058376 | p.Leu590Arg | Disease | - | - | Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100] |
O43933 | pleiotropic | VAR_058377 | p.Gly593Arg | Disease | - | - | Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100] |
O43933 | pleiotropic | VAR_058378 | p.Arg798Gly | Disease | - | - | Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100] |
O43933 | pleiotropic | VAR_058380 | p.Ala1237Glu | Disease | - | - | Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100] |
O43933 | pleiotropic | VAR_008877 | p.Gly843Asp | Disease | - | - | Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100] Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539] |
O43933 | pleiotropic | VAR_008876 | p.Leu664Pro | Disease | rs28939678 | - | Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100] Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539] |
O00623 | pleiotropic | VAR_050495 | p.Leu245Ile | Non-Disease | rs12941376 | 0.0087 | - |
O00623 | pleiotropic | VAR_058389 | p.Arg34Ser | Disease | rs147530802 | 0.0022 | Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:614859] |
O00623 | pleiotropic | VAR_031998 | p.Ser320Phe | Disease | rs28936697 | - | Peroxisome biogenesis disorder 3B (PBD3B) [MIM:266510] |
P28328 | non-pleiotropic | VAR_011389 | p.Glu55Lys | Disease | - | - | Peroxisome biogenesis disorder 5B (PBD5B) [MIM:614867] |
P28328 | non-pleiotropic | VAR_060784 | p.Cys184Arg | Non-Disease | rs10087163 | 0.0083 | - |
Q7Z412 | pleiotropic | VAR_018647 | p.Leu45Pro | Disease | - | - | Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873] |