Genetic variant
rs2070600
rs2070600 is a single-letter difference in human DNA, on chromosome 6. 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 rs2070600 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs2070600 (Gly82Ser) is a non-synonymous snp located in exon 3 of AGER (Advanced Glycation End produ...
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 rs2070600, 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
- rs2070600
- Position
- chr6:32183666
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| FEV1 FVC ratio Z score (UKB data field 20258) | T | OR 0.12 | 3E-239 | PubMed |
| Lung function (FEV1/FVC) | T | OR 32.21 | 2E-227 | PubMed |
| Lung function (FEV1/FVC) | T | OR 0.15 | 3E-189 | PubMed |
| SFTPD protein levels | T | OR 0.21 | 3E-171 | PubMed |
| Advanced glycosylation end product-specific receptor, soluble levels | T | OR 0.65 | 1E-113 | PubMed |
| Peak expiratory flow | T | β 0.073 | 2E-45 | PubMed |
| Advanced glycosylation end product-specific receptor, soluble levels (AGER.4125.52.2) | T | OR 0.57 | 4E-33 | PubMed |
| Serum levels of protein AGER | T | OR 0.52 | 1E-31 | PubMed |
| Lung function (FEV1/FVC) | T | OR 0.14 | 3E-25 | PubMed |
| Peak expiratory flow (UKB data field 3064) | T | β 0.033 | 1E-22 | PubMed |
| Blood protein levels | — | OR 0.71 | 3E-22 | PubMed |
| Pulmonary function (smoking interaction) | — | — | 1E-21 | PubMed |
| Chronic obstructive pulmonary disease | C | OR 1.21 | 1E-17 | PubMed |
| Chronic obstructive pulmonary disease | C | OR 1.19 | 1E-16 | PubMed |
| Soluble receptor for advanced glycation end-product levels | T | OR 0.39 | 9E-16 | PubMed |
| Asthma | — | OR 1.15 | 1E-15 | PubMed |
| Pulmonary function | T | β 0.088 | 3E-15 | PubMed |
| Lung function (FVC) | T | β 0.038 | 8E-15 | PubMed |
| Pulmonary function | T | OR 1 | 3E-14 | PubMed |
| Blood protein levels in cardiovascular risk | T | OR 0.37 | 5E-12 | PubMed |
Sources
- dbSNP: rs2070600 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies