Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs745364489
rs745364489
BCHE
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		A 0.800 GeneticVariation CLINVAR A patient with prolonged paralysis. 22378569

2012
dbSNP: rs745364489
rs745364489
BCHE
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		A 0.800 GeneticVariation CLINVAR A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family. 16434405

2006
dbSNP: rs745364489
rs745364489
BCHE
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		A 0.800 GeneticVariation CLINVAR Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity. 15563885

2005
dbSNP: rs745364489
rs745364489
BCHE
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		A 0.800 GeneticVariation CLINVAR Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. 12881446

2003
dbSNP: rs745364489
rs745364489
BCHE
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.800 GeneticVariation UNIPROT