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 273 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q7Z412 | pleiotropic | VAR_034146 | p.Leu153Val | Non-Disease | rs12484657 | 0.0064 | - |
Q7Z412 | pleiotropic | VAR_018649 | p.Arg98Trp | Disease | - | - | Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873] |
Q7Z412 | pleiotropic | VAR_018648 | p.Gly89Arg | Disease | - | - | Peroxisome biogenesis disorder 7A (PBD7A) [MIM:614872] |
P56589 | non-pleiotropic | VAR_053572 | p.Gln82Arg | Non-Disease | rs35220041 | 0.0234 | - |
P56589 | non-pleiotropic | VAR_009304 | p.Gly138Glu | Disease | - | - | Peroxisome biogenesis disorder 10A (PBD10A) [MIM:614882] |
O00628 | pleiotropic | VAR_016810 | p.Thr14Pro | Disease | - | - | Peroxisome biogenesis disorder 9B (PBD9B) [MIM:614879] |
O00628 | pleiotropic | VAR_007726 | p.Ala218Val | Disease | - | - | Rhizomelic chondrodysplasia punctata 1 (RCDP1) [MIM:215100] |
P08237 | non-pleiotropic | VAR_006068 | p.Trp686Cys | Disease | - | - | Glycogen storage disease 7 (GSD7) [MIM:232800] |
P08237 | non-pleiotropic | VAR_006065 | p.Arg100Gln | Disease | rs2228500 | 0.1478 | Glycogen storage disease 7 (GSD7) [MIM:232800] |
P08237 | non-pleiotropic | VAR_006067 | p.Asp543Ala | Disease | - | - | Glycogen storage disease 7 (GSD7) [MIM:232800] |
P08237 | non-pleiotropic | VAR_006066 | p.Gly209Asp | Disease | - | - | Glycogen storage disease 7 (GSD7) [MIM:232800] |
P08237 | non-pleiotropic | VAR_006064 | p.Arg39Pro | Disease | - | - | Glycogen storage disease 7 (GSD7) [MIM:232800] |
P08237 | non-pleiotropic | VAR_006063 | p.Arg39Leu | Disease | - | - | Glycogen storage disease 7 (GSD7) [MIM:232800] |
P08237 | non-pleiotropic | VAR_006069 | p.Arg696His | Disease | rs41291971 | 0.0038 | Glycogen storage disease 7 (GSD7) [MIM:232800] |
P07737 | non-pleiotropic | VAR_068928 | p.Gly118Val | Disease | - | - | Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] |
P07737 | non-pleiotropic | VAR_068925 | p.Cys71Gly | Disease | - | - | Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] |
P07737 | non-pleiotropic | VAR_068926 | p.Met114Thr | Disease | - | - | Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] |
P15259 | non-pleiotropic | VAR_006088 | p.Glu89Ala | Disease | - | - | Glycogen storage disease 10 (GSD10) [MIM:261670] |
P15259 | non-pleiotropic | VAR_013103 | p.Gly97Asp | Disease | - | - | Glycogen storage disease 10 (GSD10) [MIM:261670] |
P15259 | non-pleiotropic | VAR_006089 | p.Arg90Trp | Disease | - | - | Glycogen storage disease 10 (GSD10) [MIM:261670] |
Q9UHJ9 | non-pleiotropic | VAR_069667 | p.Thr160Ile | Disease | - | - | Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207] |
Q9UHJ9 | non-pleiotropic | VAR_069664 | p.Arg16Trp | Disease | - | - | Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207] |
Q9UHJ9 | non-pleiotropic | VAR_069668 | p.Arg177Pro | Disease | - | - | Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207] |
Q9UHJ9 | non-pleiotropic | VAR_069665 | p.Tyr99Cys | Disease | - | - | Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207] |
Q9UHJ9 | non-pleiotropic | VAR_069666 | p.Leu127Ser | Disease | - | - | Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207] |
P00558 | non-pleiotropic | VAR_006078 | p.Asp164Val | Disease | - | - | Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] |
P00558 | non-pleiotropic | VAR_006084 | p.Asp285Val | Disease | - | - | Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] |
P00558 | non-pleiotropic | VAR_006087 | p.Thr352Asn | Non-Disease | - | - | - |
P00558 | non-pleiotropic | VAR_006085 | p.Asp315Asn | Disease | - | - | Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] |
P00558 | non-pleiotropic | VAR_006082 | p.Val266Met | Disease | - | - | Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] |
P00558 | non-pleiotropic | VAR_006081 | p.Glu252Ala | Disease | - | - | Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] |
P00558 | non-pleiotropic | VAR_006077 | p.Gly158Val | Disease | - | - | Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] |
P00558 | non-pleiotropic | VAR_006086 | p.Cys316Arg | Disease | - | - | Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] |
P00558 | non-pleiotropic | VAR_006080 | p.Arg206Pro | Disease | - | - | Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] |
P00558 | non-pleiotropic | VAR_006076 | p.Leu88Pro | Disease | - | - | Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] |
P36871 | pleiotropic | VAR_062280 | p.Thr115Ala | Disease | - | - | Glycogen storage disease 14 (GSD14) [MIM:612934] |
P36871 | pleiotropic | VAR_069219 | p.Gly121Arg | Disease | - | - | Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921] |
P36871 | pleiotropic | VAR_006090 | p.Lys68Met | Non-Disease | rs200390982 | 0.0018 | - |
P36871 | pleiotropic | VAR_050496 | p.Ile88Val | Non-Disease | rs855314 | 0.1276 | - |
P36871 | pleiotropic | VAR_006091 | p.Arg221Cys | Non-Disease | rs1126728 | 0.2424 | - |
P36871 | pleiotropic | VAR_006092 | p.Tyr420His | Non-Disease | rs11208257 | 0.2388 | - |
P36871 | pleiotropic | VAR_034380 | p.Val501Ile | Non-Disease | rs6676290 | 0.0523 | - |
P78364 | non-pleiotropic | VAR_054503 | p.Thr693Ala | Non-Disease | rs1049925 | 0.3687 | - |
P78364 | non-pleiotropic | VAR_070566 | p.Leu992Phe | Disease | - | - | Microcephaly 11, primary, autosomal recessive (MCPH11) [MIM:615414] |
P78562 | non-pleiotropic | VAR_010631 | p.Arg651Pro | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010616 | p.Phe80Ser | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010617 | p.Cys85Phe | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_006742 | p.Phe252Ser | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010633 | p.Asn680Lys | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010622 | p.Asp237Gly | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |