Genetic variant
rs2066702 a variant in the ADH1B gene
rs2066702 is a single-letter difference in the ADH1B gene, on chromosome 4. ClinVar, the public archive of variant interpretations, lists it as protective: linked to a lower chance of a condition. It has been reported in connection with Alcohol dependence. 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 rs2066702 is the catalogue number of one of them, in the ADH1B gene. Which letters you carry there — one copy from each parent — is your genotype.
ADH1B (alcohol dehydrogenase 1B (class I), beta polypeptide): The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products.
Gene description from NCBI Gene
This paper found significant association with rs2066702, the SNP that defines ADH1B*3, in African Am...
From SNPedia
Why might it matter?
ClinVar records this variant as protective, meaning linked to a lower chance of a condition. 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
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 rs2066702, 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
- rs2066702
- Gene
- ADH1B
- Position
- chr4:99307860
- ClinVar classification
- protective
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Alcohol-related disorders (PheCode 317) | G | OR 0.18 | 2E-54 | PubMed |
| Alcoholism (PheCode 317.1) | G | OR 0.2 | 1E-52 | PubMed |
| Alcohol use disorder | A | OR 0.84 | 6E-32 | PubMed |
| Alcohol use disorder (MTAG) | — | OR 0.14 | 4E-24 | PubMed |
| Alcohol use disorder | G | OR 1.19 | 5E-24 | PubMed |
| Metabolite levels (octadecanedioate; octadecanedioate (C18-DC)) | A | OR 0.36 | 8E-21 | PubMed |
| creatinine (minimum, inv-norm transformed) | G | β 0.048 | 2E-20 | PubMed |
| mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed) | G | β 0.056 | 7E-19 | PubMed |
| creatinine (mean, inv-norm transformed) | G | β 0.041 | 2E-17 | PubMed |
| mean corpuscular hemoglobin (MCH, mean, inv-norm transformed) | G | β 0.051 | 4E-17 | PubMed |
| Maximum habitual alcohol consumption | — | — | 6E-17 | PubMed |
| mean corpuscular volume (MCV, maximum, inv-norm transformed) | G | β 0.053 | 7E-17 | PubMed |
| Drinks per week | A | β 0.051 | 9E-17 | PubMed |
| Blood urea nitrogen (BUN, minimum, inv-norm transformed) | G | β 0.042 | 1E-16 | PubMed |
| mean corpuscular volume (MCV, mean, inv-norm transformed) | G | β 0.051 | 9E-16 | PubMed |
| Metabolite peak levels (QI9963) | A | OR 0.28 | 8E-14 | PubMed |
| diastolic blood pressure (DBP, maximum, inv-normal transformed) | G | β 0.04 | 1E-13 | PubMed |
| Alcohol dependence | — | β 0.025 | 2E-13 | PubMed |
| Alcoholic liver damage (PheCode 317.11) | G | OR 0.31 | 4E-13 | PubMed |
| diastolic blood pressure (DBP, maximum, inv-normal transformed) | G | β 0.042 | 4E-13 | PubMed |
Sources
- dbSNP: rs2066702 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: ADH1B
- Ensembl: ADH1B
- GWAS Catalog — association studies