Genetic variant
rs1799807 a variant in the BCHE gene
rs1799807 is a single-letter difference in the BCHE gene, on chromosome 3. ClinVar, the public archive of variant interpretations, lists it as likely pathogenic: probably able to cause or contribute to disease. It has been reported in connection with Postanesthetic apnea and Deficiency of butyrylcholinesterase, among others. Carrying it does not, on its own, mean you have or will develop any condition.
What is this?
Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs1799807 is the catalogue number of one of them, in the BCHE gene. Which letters you carry there — one copy from each parent — is your genotype.
BCHE (butyrylcholinesterase): 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.
Gene description from NCBI Gene
rs1799807, also known as D70G, is a SNP in the BCHE gene. This SNP affects the structure, activity, ...
From SNPedia
Why might it matter?
ClinVar records this variant as likely pathogenic, meaning probably able to cause or contribute to disease. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.
Conditions it has been reported with
- Postanesthetic apnea
- Deficiency of butyrylcholinesterase
- BCHE-related disorder
- Autosomal recessive BCHE-related disorders
Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.
Do I have this variant?
If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs1799807, if your test read this position.
Connect this with your blood results
A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.
Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.
What should I do next?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.
Technical details
- dbSNP ID
- rs1799807
- Gene
- BCHE
- Position (GRCh38)
- chr3:165830740
- Variant type
- snv
- Consequence
- missense variant
- ClinVar classification
- Pathogenic/Likely pathogenic
Genome-wide association 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 |
How common the less frequent letter is
- gnomAD ALL
- 1.6%
- 1kG AFR
- 0.1%
- 1kG ALL
- 99.4%
- 1kG AMR
- 98.7%
- 1kG EAS
- 100%
- 1kG EUR
- 2%
- 1kG SAS
- 100%
Sources
- dbSNP: rs1799807 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: BCHE
- Ensembl: BCHE
- GWAS Catalog — association studies