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 48 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P06276 | non-pleiotropic | VAR_040020 | p.Leu153Phe | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040027 | p.Thr271Met | Disease | rs28933389 | 0.0004 | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040025 | p.Ala227Val | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040035 | p.Gly418Val | Disease | rs28933390 | 0.002 | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040017 | p.Asn124Tyr | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040030 | p.Lys295Arg | Disease | rs115624085 | 0.0002 | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040036 | p.Phe446Ser | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040026 | p.Ala229Thr | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040042 | p.Gln546Leu | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040015 | p.Pro65Ser | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040016 | p.Asp98His | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040031 | p.Leu335Pro | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040022 | p.Val170Met | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_002364 | p.Ala567Thr | Disease | rs1803274 | 0.1585 | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_002360 | p.Asp98Gly | Disease | rs1799807 | 0.006 | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040019 | p.Gly143Asp | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040012 | p.Thr52Met | Disease | rs56309853 | 0.0004 | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040029 | p.Glu283Asp | Non-Disease | rs16849700 | 0.0156 | - |
P06276 | non-pleiotropic | VAR_040039 | p.Phe502Leu | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040023 | p.Asp198Glu | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040041 | p.Arg543Cys | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040037 | p.Glu488Lys | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040028 | p.Thr278Pro | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_002362 | p.Leu358Ile | Disease | rs121918557 | 0.0002 | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040014 | p.Tyr61Cys | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040013 | p.Phe56Ile | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040018 | p.Pro128Ser | Disease | rs3732880 | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040032 | p.Ala356Asp | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040040 | p.Glu525Val | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P06276 | non-pleiotropic | VAR_040034 | p.Arg414Cys | Disease | - | - | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
P12694 | non-pleiotropic | VAR_015102 | p.Phe409Cys | Disease | - | - | Maple syrup urine disease 1A (MSUD1A) [MIM:248600] |
P12694 | non-pleiotropic | VAR_069750 | p.Arg346Cys | Disease | - | - | Maple syrup urine disease 1A (MSUD1A) [MIM:248600] |
P12694 | non-pleiotropic | VAR_004972 | p.Tyr413Cys | Disease | - | - | Maple syrup urine disease 1A (MSUD1A) [MIM:248600] |
P12694 | non-pleiotropic | VAR_004971 | p.Ile326Thr | Disease | - | - | Maple syrup urine disease 1A (MSUD1A) [MIM:248600] |
P12694 | non-pleiotropic | VAR_015101 | p.Gly290Arg | Disease | - | - | Maple syrup urine disease 1A (MSUD1A) [MIM:248600] |
P12694 | non-pleiotropic | VAR_004969 | p.Gln190Lys | Disease | - | - | Maple syrup urine disease 1A (MSUD1A) [MIM:248600] |
P12694 | non-pleiotropic | VAR_069748 | p.Thr211Met | Disease | - | - | Maple syrup urine disease 1A (MSUD1A) [MIM:248600] |
P12694 | non-pleiotropic | VAR_034360 | p.Pro39His | Non-Disease | rs34589432 | 0.0597 | - |
P12694 | non-pleiotropic | VAR_004973 | p.Tyr438Asn | Disease | - | - | Maple syrup urine disease 1A (MSUD1A) [MIM:248600] |
P12694 | non-pleiotropic | VAR_069749 | p.Ala220Val | Disease | - | - | Maple syrup urine disease 1A (MSUD1A) [MIM:248600] |
P12694 | non-pleiotropic | VAR_004968 | p.Arg159Trp | Disease | - | - | Maple syrup urine disease 1A (MSUD1A) [MIM:248600] |
P12694 | non-pleiotropic | VAR_034361 | p.Thr151Met | Non-Disease | rs34442879 | 0.0055 | - |
P12694 | non-pleiotropic | VAR_004970 | p.Ala253Thr | Disease | - | - | Maple syrup urine disease 1A (MSUD1A) [MIM:248600] |
P21953 | non-pleiotropic | VAR_050437 | p.Thr41Ile | Non-Disease | rs35470366 | 0.0069 | - |
P21953 | non-pleiotropic | VAR_068348 | p.Arg170His | Disease | - | - | Maple syrup urine disease 1B (MSUD1B) [MIM:248600] |
P21953 | non-pleiotropic | VAR_004974 | p.His206Arg | Disease | - | - | Maple syrup urine disease 1B (MSUD1B) [MIM:248600] |
P21953 | non-pleiotropic | VAR_024852 | p.Gly278Ser | Disease | - | - | Maple syrup urine disease 1B (MSUD1B) [MIM:248600] |
P21953 | non-pleiotropic | VAR_024851 | p.Arg183Pro | Disease | rs28934895 | - | Maple syrup urine disease 1B (MSUD1B) [MIM:248600] |
P21953 | non-pleiotropic | VAR_068349 | p.Gln346Arg | Disease | - | - | Maple syrup urine disease 1B (MSUD1B) [MIM:248600] |
O14874 | non-pleiotropic | VAR_069037 | p.Arg224Pro | Disease | - | - | Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) [MIM:614923] |