Genetic variant
rs2657879
rs2657879 is a single-letter difference in human DNA, on chromosome 12. 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 rs2657879 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 rs2657879, 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
- rs2657879
- Position
- chr12:56471554
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Glutamine levels | G | OR 0.26 | 5E-2019 | PubMed |
| Alanine levels | G | β 0.1 | 8E-304 | PubMed |
| Glutamine levels | A | OR 35.71 | 2E-279 | PubMed |
| Glycine levels | G | β 0.05 | 6E-85 | PubMed |
| Glutamine levels | G | OR 0.22 | 3E-70 | PubMed |
| Total concentration of branched-chain amino acids (leucine + isoleucine + valine) | G | β 0.04 | 8E-63 | PubMed |
| Isoleucine levels | G | β 0.04 | 1E-54 | PubMed |
| Leucine levels | G | β 0.04 | 1E-53 | PubMed |
| Glutamine levels | G | OR 0.29 | 4E-51 | PubMed |
| Serum metabolite levels (CMS) | — | OR 0.15 | 7E-36 | PubMed |
| Serum metabolite levels | — | OR 0.15 | 5E-33 | PubMed |
| Gamma-glutamylglutamine levels | G | OR 0.21 | 5E-28 | PubMed |
| Glutamine levels | A | OR 0.23 | 2E-25 | PubMed |
| Glycine levels | A | β 0.046 | 3E-24 | PubMed |
| Glycine levels | A | β 0.048 | 3E-21 | PubMed |
| Threonine levels | G | OR 9.12 | 8E-20 | PubMed |
| Urate levels | A | β 0.021 | 4E-19 | PubMed |
| Gamma-glutamylglutamine levels | A | β 0.024 | 6E-19 | PubMed |
| Plasma free amino acid levels (adjusted for twenty other PFAAs) | A | OR 0.41 | 2E-18 | PubMed |
| Glutamine levels | A | β 0.015 | 6E-18 | PubMed |
Sources
- dbSNP: rs2657879 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies