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 90 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q96H96 | pleiotropic | VAR_070241 | p.Ser57Thr | Disease | - | - | Multiple system atrophy 1 (MSA1) [MIM:146500] |
Q96H96 | pleiotropic | VAR_025701 | p.Tyr247Cys | Disease | - | - | Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426] |
Q96H96 | pleiotropic | VAR_070246 | p.Ser113Phe | Disease | - | - | Multiple system atrophy 1 (MSA1) [MIM:146500] |
Q96H96 | pleiotropic | VAR_070238 | p.Pro22Leu | Non-Disease | - | - | - |
Q9Y2Z9 | non-pleiotropic | VAR_068216 | p.Gly255Arg | Disease | - | - | Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650] |
Q9Y2Z9 | non-pleiotropic | VAR_068217 | p.Glu287Lys | Non-Disease | rs17851169 | - | - |
Q9Y2Z9 | non-pleiotropic | VAR_033813 | p.Asp339Val | Non-Disease | rs2074930 | 0.1465 | - |
Q9Y2Z9 | non-pleiotropic | VAR_052691 | p.Asp300Tyr | Non-Disease | rs1044640 | - | - |
Q9Y2Z9 | non-pleiotropic | VAR_014953 | p.Val406Met | Non-Disease | rs8500 | 0.3421 | - |
Q9Y2Z9 | non-pleiotropic | VAR_068218 | p.Ala353Asp | Disease | - | - | Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650] |
Q9Y2Z9 | non-pleiotropic | VAR_033814 | p.Thr395Met | Non-Disease | rs34746680 | 0.0046 | - |
Q9Y5Q5 | non-pleiotropic | VAR_067796 | p.Asp444Gly | Non-Disease | rs13105608 | - | - |
Q9Y5Q5 | non-pleiotropic | VAR_067795 | p.Lys317Glu | Disease | - | - | Pre-eclampsia/eclampsia 5 (PEE5) [MIM:614595] |
Q9Y5Q5 | non-pleiotropic | VAR_067797 | p.Ser472Gly | Disease | - | - | Pre-eclampsia/eclampsia 5 (PEE5) [MIM:614595] |
Q9Y5Q5 | non-pleiotropic | VAR_038001 | p.His525Arg | Non-Disease | rs11934749 | 0.0712 | - |
Q9Y5Q5 | non-pleiotropic | VAR_038000 | p.Cys13Tyr | Non-Disease | rs2289433 | 0.2902 | - |
P31146 | non-pleiotropic | VAR_011957 | p.Thr443Pro | Non-Disease | rs1053574 | - | - |
P31146 | non-pleiotropic | VAR_011956 | p.Arg415Lys | Non-Disease | rs1804109 | - | - |
P31146 | non-pleiotropic | VAR_070447 | p.Val134Met | Disease | - | - | Immunodeficiency 8 (IMD8) [MIM:615401] |
Q12887 | non-pleiotropic | VAR_057373 | p.Tyr97Cys | Non-Disease | rs16948986 | 0.0225 | - |
Q12887 | non-pleiotropic | VAR_064768 | p.Leu258His | Non-Disease | - | - | - |
Q12887 | non-pleiotropic | VAR_057371 | p.Thr28Ile | Non-Disease | rs16948978 | 0.0225 | - |
Q12887 | non-pleiotropic | VAR_026565 | p.Asp336Gly | Disease | - | - | Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] |
Q12887 | non-pleiotropic | VAR_060234 | p.Gly340Asp | Non-Disease | rs1050214 | - | - |
Q12887 | non-pleiotropic | VAR_060233 | p.Arg159Gln | Non-Disease | rs8077302 | 0.4867 | - |
Q12887 | non-pleiotropic | VAR_026562 | p.Thr196Lys | Disease | - | - | Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] |
Q12887 | non-pleiotropic | VAR_057372 | p.Thr62Ser | Non-Disease | rs2230351 | 0.0716 | - |
Q12887 | non-pleiotropic | VAR_026563 | p.Asn204Lys | Disease | - | - | Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] |
Q12887 | non-pleiotropic | VAR_026566 | p.Asp336Val | Disease | - | - | Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] |
Q12887 | non-pleiotropic | VAR_026564 | p.Pro225Leu | Disease | rs104894556 | 0.0002 | Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] |
Q7KZN9 | pleiotropic | VAR_033117 | p.Ser344Pro | Disease | - | - | Leigh syndrome (LS) [MIM:256000] |
Q7KZN9 | pleiotropic | VAR_019596 | p.Arg217Trp | Disease | rs28939711 | - | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (CEMCOX2) [MIM:615119] Leigh syndrome (LS) [MIM:256000] |
Q96KJ9 | non-pleiotropic | VAR_033815 | p.Arg161His | Non-Disease | rs11907253 | 0.0753 | - |
Q96KJ9 | non-pleiotropic | VAR_058101 | p.Glu138Lys | Disease | rs119455950 | 0.0016 | Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714] |
P14854 | non-pleiotropic | VAR_046775 | p.Arg20His | Disease | - | - | Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] |
P15169 | non-pleiotropic | VAR_042415 | p.Gly178Asp | Disease | rs61751507 | 0.0266 | Carboxypeptidase N deficiency (CPND) [MIM:212070] |
P50416 | non-pleiotropic | VAR_020554 | p.Asp454Gly | Disease | - | - | Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] |
P50416 | non-pleiotropic | VAR_020546 | p.Arg123Cys | Disease | - | - | Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] |
P50416 | non-pleiotropic | VAR_046767 | p.Arg316Gly | Disease | - | - | Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] |
P50416 | non-pleiotropic | VAR_020557 | p.Tyr498Cys | Disease | - | - | Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] |
P50416 | non-pleiotropic | VAR_020555 | p.Pro479Leu | Disease | - | - | Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] |
P50416 | non-pleiotropic | VAR_046768 | p.Phe343Val | Disease | - | - | Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] |
P50416 | non-pleiotropic | VAR_020547 | p.Ala275Thr | Non-Disease | rs2229738 | 0.0363 | - |
P50416 | non-pleiotropic | VAR_020559 | p.Gly710Glu | Disease | - | - | Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] |
P50416 | non-pleiotropic | VAR_020556 | p.Leu484Pro | Disease | - | - | Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] |
P50416 | non-pleiotropic | VAR_020548 | p.Cys304Trp | Disease | - | - | Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] |
P50416 | non-pleiotropic | VAR_020549 | p.Thr314Ile | Disease | - | - | Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] |
P50416 | non-pleiotropic | VAR_020558 | p.Gly709Glu | Disease | rs28936374 | - | Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] |
P50416 | non-pleiotropic | VAR_020551 | p.Glu360Gly | Disease | rs28936372 | - | Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] |
P50416 | non-pleiotropic | VAR_020553 | p.Ala414Val | Disease | rs28936373 | - | Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] |