BCHE, butyrylcholinesterase, 590

N. diseases: 392; N. variants: 101
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799807
rs1799807
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		C 0.800 GeneticVariation CLINVAR Naturally Occurring Genetic Variants of Human Acetylcholinesterase and Butyrylcholinesterase and Their Potential Impact on the Risk of Toxicity from Cholinesterase Inhibitors. 27551784 2016
dbSNP: rs1799807
rs1799807
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		C 0.800 GeneticVariation CLINVAR Review of human butyrylcholinesterase structure, function, genetic variants, history of use in the clinic, and potential therapeutic uses. 25448037 2015
dbSNP: rs1799807
rs1799807
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		C 0.800 CausalMutation CLINVAR Review of human butyrylcholinesterase structure, function, genetic variants, history of use in the clinic, and potential therapeutic uses. 25448037 2015
dbSNP: rs104893684
rs104893684
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		0.800 GeneticVariation UNIPROT "Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), ""silent"" with mivacurium." 25264279 2014
dbSNP: rs104893684
rs104893684
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		0.800 GeneticVariation UNIPROT "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
dbSNP: rs121918557
rs121918557
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		0.800 GeneticVariation UNIPROT "Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), ""silent"" with mivacurium." 25264279 2014
dbSNP: rs121918557
rs121918557
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		0.800 GeneticVariation UNIPROT "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
dbSNP: rs121918558
rs121918558
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		0.800 GeneticVariation UNIPROT "Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), ""silent"" with mivacurium." 25264279 2014
dbSNP: rs121918558
rs121918558
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		0.800 GeneticVariation UNIPROT "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
dbSNP: rs1799807
rs1799807
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		0.800 GeneticVariation UNIPROT "Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), ""silent"" with mivacurium." 25264279 2014
dbSNP: rs1799807
rs1799807
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		0.800 GeneticVariation UNIPROT "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
dbSNP: rs1799807
rs1799807
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		C 0.800 GeneticVariation CLINVAR "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
dbSNP: rs201820739
rs201820739
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		0.800 GeneticVariation UNIPROT "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
dbSNP: rs201820739
rs201820739
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		0.800 GeneticVariation UNIPROT "Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), ""silent"" with mivacurium." 25264279 2014
dbSNP: rs28933389
rs28933389
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		0.800 GeneticVariation UNIPROT "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
dbSNP: rs28933389
rs28933389
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		0.800 GeneticVariation UNIPROT "Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), ""silent"" with mivacurium." 25264279 2014
dbSNP: rs3732880
rs3732880
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		0.800 GeneticVariation UNIPROT "Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), ""silent"" with mivacurium." 25264279 2014
dbSNP: rs3732880
rs3732880
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		0.800 GeneticVariation UNIPROT "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
dbSNP: rs1799807
rs1799807
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		C 0.800 GeneticVariation CLINVAR An Indian butyrylcholinesterase variant L307P is not structurally stable: a molecular dynamics simulation study. 23123771 2013
dbSNP: rs745364489
rs745364489
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		A 0.800 GeneticVariation CLINVAR A patient with prolonged paralysis. 22378569 2012
dbSNP: rs1799807
rs1799807
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		C 0.800 GeneticVariation CLINVAR Butyrylcholinesterase gene mutations in patients with prolonged apnea after succinylcholine for electroconvulsive therapy. 21029050 2011
dbSNP: rs1799807
rs1799807
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		C 0.800 GeneticVariation CLINVAR Concordance of butyrylcholinesterase phenotype with genotype: implications for biochemical reporting. 21228368 2011
dbSNP: rs1799807
rs1799807
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		C 0.800 GeneticVariation CLINVAR Prolonged apnea during electroconvulsive therapy in monozygotic twins: case reports. 22053728 2011
dbSNP: rs1799807
rs1799807
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1283400
Disease:
Butyrylcholinesterase deficiency 		C 0.800 GeneticVariation CLINVAR Biochemical and genetic analysis of butyrylcholinesterase (BChE) in a family, due to prolonged neuromuscular blockade after the use of succinylcholine. 21637541 2011
dbSNP: rs1803274
rs1803274
Entrez Id: 590
Gene Symbol: BCHE
BCHE
CUI: C1168443
Disease:
Pseudocholinesterase Measurement 		T 0.800 GeneticVariation GWASCAT Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. 21943158 2011