Genetic variant
rs1051730
rs1051730 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 rs1051730 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs1051730, also known as D398N, is a SNP in the nicotinic acetylcholine receptor alpha 3 subunit CHR...
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 rs1051730, 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
- rs1051730
- Position
- chr15:78601997
Genome-wide association studies (19)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Smoking behaviour (cigarettes smoked per day) | A | OR 0.1 | 6E-121 | PubMed |
| Smoking behavior | G | OR 1.02 | 3E-73 | PubMed |
| Smoking behavior | A | OR 0.8 | 2E-69 | PubMed |
| Smoking behavior | G | β 0.08 | 2E-66 | PubMed |
| Lung cancer in ever smokers | T | OR 1.34 | 3E-52 | PubMed |
| Lung adenocarcinoma | T | OR 1.31 | 2E-51 | PubMed |
| Lung cancer | T | OR 1.27 | 3E-49 | PubMed |
| Nicotine dependence | T | β 0.1 | 6E-20 | PubMed |
| Post bronchodilator FEV1/FVC ratio | A | β 0.016 | 1E-16 | PubMed |
| Lung cancer | A | OR 1.35 | 1E-15 | PubMed |
| Post bronchodilator FEV1 | A | β 0.077 | 2E-15 | PubMed |
| Pre bronchodilator FEV1/FVC ratio | — | β 0.017 | 9E-11 | PubMed |
| Pre bronchodilator FEV1 | — | β 0.08 | 2E-9 | PubMed |
| Poultry consumption | G | β 0.013 | 5E-9 | PubMed |
| Peripheral artery disease in non diabetes | T | OR 1.12 | 9E-9 | PubMed |
| Peripheral artery disease in ever smokers | T | OR 1.12 | 1E-8 | PubMed |
| Smoking status (heavy vs light) | A | OR 1.34 | 2E-8 | PubMed |
| Post bronchodilator FEV1/FVC ratio in COPD | A | β 0.013 | 2E-7 | PubMed |
| Lung cancer (SNP x SNP interaction) | — | — | 9E-6 | PubMed |
Sources
- dbSNP: rs1051730 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies