Genetic variant
rs1229984 a variant in the ADH1B gene
rs1229984 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 Aerodigestive tract cancer, squamous cell, alcohol-related, protection against and 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 rs1229984 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
A SNP in rs1229984 encodes a form of the alcohol dehydrogenase ADH1B gene that significantly reduces...
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
- Aerodigestive tract cancer, squamous cell, alcohol-related, protection against
- Alcohol dependence
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 rs1229984, 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
- rs1229984
- Gene
- ADH1B
- Position
- chr4:99318162
- ClinVar classification
- protective
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Drinks per week | C | β 0.082 | 5E-324 | PubMed |
| Alcohol consumption (drinks per week) | C | OR 0.15 | 2E-308 | PubMed |
| Drinks per week | C | OR 0.19 | 6E-284 | PubMed |
| Alcohol consumption (drinks per week) (MTAG) | C | OR 0.15 | 7E-280 | PubMed |
| Problematic alcohol use (MTAG) | C | OR 0.24 | 6E-267 | PubMed |
| Alcohol consumption (drinks per month) (UKB data field 1578, 4424) | T | OR 0.23 | 4E-248 | PubMed |
| Alcohol-related disorders (PheCode 317) | T | OR 0.61 | 6E-239 | PubMed |
| Alcohol use disorder (consumption score) | T | OR 32.3 | 7E-229 | PubMed |
| Alcohol-related disorders (PheCode 317) | T | OR 0.54 | 5E-220 | PubMed |
| Alcohol consumption (drinks per week) | T | OR 0.23 | 8E-202 | PubMed |
| Alcoholism (PheCode 317.1) | T | OR 0.65 | 8E-185 | PubMed |
| Alcoholism (PheCode 317.1) | T | OR 0.57 | 8E-183 | PubMed |
| Problematic alcohol use (MTAG) | — | OR 0.22 | 2E-182 | PubMed |
| Maximum habitual alcohol consumption (MTAG) | — | OR 0.19 | 3E-176 | PubMed |
| Alcohol consumption (drinks per week) | C | OR 0.25 | 2E-173 | PubMed |
| Alcohol use disorder (consumption score) | T | OR 0.58 | 7E-173 | PubMed |
| Alcohol use disorder | T | OR 27.11 | 7E-162 | PubMed |
| Drinks per week | C | OR 0.14 | 2E-157 | PubMed |
| Bitter alcoholic beverage consumption | C | β 0.082 | 2E-140 | PubMed |
| Alcohol use disorder | T | OR 0.56 | 1E-131 | PubMed |
Sources
- dbSNP: rs1229984 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: ADH1B
- Ensembl: ADH1B
- GWAS Catalog — association studies