rs769316835, BCHE

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT "Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), ""silent"" with mivacurium." 25264279 2014
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase. 17700357 2007
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia. 18075469 2007
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India. 16788378 2006
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity. 15563885 2005
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample. 15781196 2005
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. 12881446 2003
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Naturally occurring mutation, Asp70his, in human butyrylcholinesterase. 11928765 2002
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure. 10404729 1999
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase--a case of familial cholinesterasemia. 9694584 1998
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency. 9543549 1997
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase. 9110359 1997
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells. 9388484 1997
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan. 9191541 1997
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene. 8554068 1996
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes. 7634491 1995
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT DNA mutations associated with the human butyrylcholinesterase J-variant. 1349196 1992
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Structural basis of the butyrylcholinesterase H-variant segregating in two Danish families. 1306123 1992
Butyrylcholinesterase deficiency
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
0.700 GeneticVariation UNIPROT Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase. 2915989 1989