Genetic variant
rs11940694
rs11940694 is a single-letter difference in human DNA, on chromosome 4. 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 rs11940694 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
http://www.pnas.org/content/early/2016/11/22/1611243113 alcohol
From SNPedia
Why might it matter?
ClinVar holds no clinical classification for this variant. That is the usual case: most catalogued variants have no known effect on health.
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 rs11940694, 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
- rs11940694
- Position
- chr4:39413373
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Drinks per week | G | β 0.024 | 9E-188 | PubMed |
| Drinks per week | G | β 0.025 | 2E-160 | PubMed |
| Alcohol consumption | A | β 0.019 | 3E-68 | PubMed |
| Alcohol consumption (drinks per week) | G | β 0.026 | 3E-68 | PubMed |
| Blood urea nitrogen (BUN, mean, inv-norm transformed) | A | β 0.042 | 1E-67 | PubMed |
| Alcohol consumption (drinks per week) (MTAG) | G | β 0.023 | 4E-64 | PubMed |
| Alcohol consumption (drinks per month) (UKB data field 1578, 4424) | A | β 0.036 | 7E-62 | PubMed |
| Blood urea nitrogen (BUN, minimum, inv-norm transformed) | A | β 0.041 | 3E-60 | PubMed |
| Blood urea nitrogen (BUN, maximum, inv-norm transformed) | A | β 0.032 | 9E-43 | PubMed |
| Alcohol consumption (drinks per week) | A | β 0.031 | 3E-41 | PubMed |
| Blood urea nitrogen (BUN, mean, inv-norm transformed) | A | β 0.032 | 2E-39 | PubMed |
| Blood urea nitrogen (BUN, minimum, inv-norm transformed) | A | β 0.032 | 3E-38 | PubMed |
| Bitter alcoholic beverage consumption | G | β 0.013 | 4E-33 | PubMed |
| Blood urea nitrogen (BUN, maximum, inv-norm transformed) | A | β 0.026 | 3E-28 | PubMed |
| Liver enzyme levels (gamma-glutamyl transferase) | A | β 0.005 | 3E-23 | PubMed |
| Alcohol-related disorders (PheCode 317) | A | β 0.054 | 5E-22 | PubMed |
| Drinks per week | G | β 0.025 | 6E-21 | PubMed |
| Alcohol use disorder (total score) | A | OR 9.38 | 7E-21 | PubMed |
| Alcohol-related disorders (PheCode 317) | A | β 0.049 | 1E-19 | PubMed |
| Alcohol use and misuse (confirmatory factor analysis Factor 22) | — | — | 2E-19 | PubMed |
Sources
- dbSNP: rs11940694 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies