Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT "Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), ""silent"" with mivacurium." 25264279

2014
dbSNP: rs3732880
rs3732880
BCHE
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: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia. 18075469

2007
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase. 17700357

2007
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India. 16788378

2006
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample. 15781196

2005
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity. 15563885

2005
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. 12881446

2003
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Naturally occurring mutation, Asp70his, in human butyrylcholinesterase. 11928765

2002
dbSNP: rs3732880
rs3732880
BCHE
A 0.800 GeneticVariation CLINVAR Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping. 11163024

2001
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure. 10404729

1999
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase--a case of familial cholinesterasemia. 9694584

1998
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency. 9543549

1997
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan. 9191541

1997
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells. 9388484

1997
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase. 9110359

1997
dbSNP: rs3732880
rs3732880
BCHE
A 0.800 GeneticVariation CLINVAR Familial hypocholinesterasemia found in a family and a new confirmed mutation. 9058093

1997
dbSNP: rs3732880
rs3732880
BCHE
A 0.800 GeneticVariation CLINVAR Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan. 9191541

1997
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene. 8554068

1996
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes. 7634491

1995
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT DNA mutations associated with the human butyrylcholinesterase J-variant. 1349196

1992
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Structural basis of the butyrylcholinesterase H-variant segregating in two Danish families. 1306123

1992
dbSNP: rs3732880
rs3732880
BCHE
0.800 GeneticVariation UNIPROT Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase. 2915989

1989