RS1799807 BCHE
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What This Variant Does
"rs1799807, also known as D70G, is a SNP in the BCHE gene. This SNP affects the structure, activity, ...
Associated Conditions
Postanesthetic apnea
Deficiency of butyrylcholinesterase
BCHE-related disorder
Autosomal recessive BCHE-related disorders
Postanesthetic apnea
Deficiency of butyrylcholinesterase
BCHE-related disorder
Autosomal recessive BCHE-related disorders
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| BCHE protein levels | C | OR: 0.43 | 3E-118 | PubMed |
| Platelet-activating factor acetylhydrolase levels | T | OR: 0.86 | 9E-76 | PubMed |
| Peflin levels | T | OR: 0.82 | 1E-69 | PubMed |
| Coiled-coil domain-containing protein 126 levels | T | OR: 0.67 | 3E-46 | PubMed |
| Integral membrane protein 2B levels | T | OR: 0.63 | 5E-42 | PubMed |
| Apolipoprotein B levels | T | OR: 0.63 | 3E-41 | PubMed |
| Sodium-coupled monocarboxylate transporter 1 levels | T | OR: 0.63 | 4E-41 | PubMed |
| Rho GTPase-activating protein 30 levels | T | OR: 0.59 | 2E-40 | PubMed |
| F-box/LRR-repeat protein 4 levels | T | OR: 0.62 | 5E-40 | PubMed |
| Serum albumin levels | T | OR: 0.6 | 2E-38 | PubMed |
| Calcium-activated potassium channel subunit beta-3 levels | T | OR: 0.54 | 8E-32 | PubMed |
| CREB-binding protein levels | T | OR: 0.49 | 1E-25 | PubMed |
| DCN1-like protein 1 levels | T | OR: 0.37 | 4E-15 | PubMed |
| FEV1 FVC ratio Z score (UKB data field 20258) | C | β: 0.049 | 2E-12 | PubMed |
| Lung function (FEV1/FVC) | — | — | 4E-12 | PubMed |
| Lung function (FEV1/FVC) | T | β: 0.06 | 9E-12 | PubMed |
| Protein quantitative trait loci (liver) | C | β: 0.032 | 1E-9 | PubMed |
| Chronic obstructive pulmonary disease liability (machine learning-based score) | T | β: 0.043 | 2E-9 | PubMed |
| FEV1/FVC ratio | — | — | 5E-9 | PubMed |
| Peak expiratory flow | T | β: 0.05 | 5E-8 | PubMed |
Other Variants in BCHE