rs1799807

This is a variant in the BCHE gene that changes a aspartate to an glycine.

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GWAS Catalog Trait Associations (13)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

level of cholinesterase in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.43
p 3.0e-118
N 47,745
Large GWAS
European

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.85
p 9.0e-76
N 10,708
Large GWAS
European
He B et al. “Genome-wide pQTL analysis of protein expression regulatory networks in the human liver.” Bmc Biology 18(1):97 (2020)
Allele T
OR —
β 0.032
p 1.0e-9
N 287
Small GWAS
multi-ancestry

coiled-coil domain-containing protein 126 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.67
p 3.0e-46
N 10,708
Large GWAS
European

integral membrane protein 2B measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.63
p 5.0e-42
N 10,708
Large GWAS
European

apolipoprotein B measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.63
p 3.0e-41
N 10,708
Large GWAS
European

sodium-coupled monocarboxylate transporter 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.63
p 4.0e-41
N 10,708
Large GWAS
European

rho GTPase-activating protein 30 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.59
p 2.0e-40
N 10,708
Large GWAS
European

f-box/LRR-repeat protein 4 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.62
p 5.0e-40
N 10,708
Large GWAS
European

serum albumin amount

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.60
p 2.0e-38
N 10,708
Large GWAS
European

CREB-binding protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.49
p 1.0e-25
N 10,708
Large GWAS
European
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ClinVar annotation

Pathogenic★★★☆
26 submitters24 publications

BCHE-related disorder; Deficiency of butyrylcholinesterase (BCHED); Postanesthetic apnea

View on ClinVar →

About BCHE

This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]

View all BCHE variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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