Genetic variant
rs12914385
rs12914385 is a single-letter difference in human DNA, on chromosome 15. 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 rs12914385 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
We hold only the basic reference record for this variant: its ID and position. Many catalogued variants have never been linked to anything.
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 rs12914385, 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
- rs12914385
- Position
- chr15:78606381
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Chronic airway obstruction (PheCode 496) | C | β 0.096 | 3E-93 | PubMed |
| Asphyxia and hypoxemia (PheCode 1013) | C | OR 0.11 | 2E-21 | PubMed |
| Lung cancer | T | OR 1.28 | 1E-18 | PubMed |
| Post bronchodilator FEV1/FVC ratio | T | β 0.016 | 6E-18 | PubMed |
| Post bronchodilator FEV1 | T | β 0.078 | 1E-17 | PubMed |
| Emphysema distribution in smoking | T | OR 0.11 | 2E-17 | PubMed |
| Lung cancer | — | OR 1.16 | 6E-17 | PubMed |
| Peripheral vascular disease | C | β 0.059 | 6E-17 | PubMed |
| Peripheral vascular disease, unspecified (PheCode 443.9) | C | β 0.059 | 2E-16 | PubMed |
| Chronic bronchitis | T | OR 0.13 | 2E-16 | PubMed |
| Chronic obstructive pulmonary disease (severe) | T | OR 1.39 | 3E-16 | PubMed |
| Chronic obstructive pulmonary disease | T | OR 1.36 | 3E-16 | PubMed |
| Peripheral vascular disease, unspecified (PheCode 443.9) | C | β 0.062 | 9E-16 | PubMed |
| Pneumonia (PheCode 480) | C | β 0.055 | 1E-15 | PubMed |
| Chronic obstructive pulmonary disease (moderate to severe) | T | OR 1.28 | 6E-14 | PubMed |
| Atherosclerosis of native arteries of the extremities with intermittent claudication (PheCode 440.22) | C | OR 0.1 | 1E-12 | PubMed |
| Pre bronchodilator FEV1/FVC ratio | — | β 0.018 | 1E-11 | PubMed |
| Pre bronchodilator FEV1 | — | β 0.082 | 2E-10 | PubMed |
| Cigarettes smoked per day (current) | T | β 0.014 | 4E-10 | PubMed |
| Lung cancer | — | OR 1.19 | 6E-9 | PubMed |
Sources
- dbSNP: rs12914385 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies