Genetic variant
rs3134940 a variant in the AGER gene
rs3134940 is a single-letter difference in the AGER gene, on chromosome 6. It has been reported in connection with Copd, severe early onset. 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 rs3134940 is the catalogue number of one of them, in the AGER gene. Which letters you carry there — one copy from each parent — is your genotype.
AGER (advanced glycosylation end-product specific receptor): The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease.
Gene description from NCBI Gene
Receptor for advanced glycation end-products and ARDS prediction: a multicentre observational study.
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.
Conditions it has been reported with
- Copd, severe early onset
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 rs3134940, 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
- rs3134940
- Gene
- AGER
- Position
- chr6:32182039
- ClinVar classification
- Likely risk allele
Genome-wide association studies (1)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Takayasu arteritis | — | OR 2.52 | 3E-11 | PubMed |
Sources
- dbSNP: rs3134940 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: AGER
- Ensembl: AGER
- GWAS Catalog — association studies