Genetic variant
rs4986790
rs4986790 is a single-letter difference in human DNA, on chromosome 9. 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 rs4986790 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs4986790, a SNP also known as Asp299Gly (and also 896A/G) in the TLR4 gene, is often studied along ...
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 rs4986790, 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
- rs4986790
- Position
- chr9:117713024
Genome-wide association studies (10)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| TLR4 protein levels | G | OR 0.29 | 1E-105 | PubMed |
| Toll-like receptor 4:Lymphocyte antigen 96 complex levels (TLR4.LY96.3647.49.4) | G | OR 0.9 | 3E-70 | PubMed |
| IL27 protein levels | G | OR 0.12 | 1E-32 | PubMed |
| Prostate-specific antigen levels | A | β 0.065 | 7E-17 | PubMed |
| Basophil (fraction, mean, inv-norm transformed) | A | β 0.062 | 7E-17 | PubMed |
| Basophil (fraction, minimum, inv-norm transformed) | A | β 0.051 | 2E-14 | PubMed |
| Basophil (fraction, mean, inv-norm transformed) | A | β 0.051 | 1E-13 | PubMed |
| Basophil (fraction, maximum, inv-norm transformed) | A | β 0.044 | 2E-11 | PubMed |
| Chronic inflammatory diseases (ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) | — | — | 1E-8 | PubMed |
| Crohn's disease | — | OR 0.13 | 6E-6 | PubMed |
Sources
- dbSNP: rs4986790 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies