Genetic variant
rs2638315
rs2638315 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 rs2638315 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 rs2638315, 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
- rs2638315
- Position
- chr12:56471272
Genome-wide association studies (15)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Metabolite levels | — | OR 0.29 | 2E-35 | PubMed |
| Albumin levels | C | β 0.03 | 4E-30 | PubMed |
| C-reactive protein levels | G | β 0.022 | 1E-17 | PubMed |
| Valine levels | G | β 0.043 | 1E-16 | PubMed |
| Leucine levels | G | β 0.042 | 4E-16 | PubMed |
| C-reactive protein levels (UKB data field 30710) | C | β 0.02 | 8E-16 | PubMed |
| Total concentration of branched-chain amino acids (leucine + isoleucine + valine) (UKB data field 23464) | C | β 0.047 | 2E-15 | PubMed |
| Valine levels (UKB data field 23467) | C | β 0.045 | 1E-14 | PubMed |
| Leucine levels (UKB data field 23466) | C | β 0.044 | 3E-14 | PubMed |
| Histidine levels | C | OR 7.49 | 7E-14 | PubMed |
| PTPRF protein levels | C | β 0.048 | 2E-12 | PubMed |
| Albumin levels | C | OR 0.11 | 3E-12 | PubMed |
| Gout | C | OR 1.05 | 1E-10 | PubMed |
| Gout | C | OR 1.04 | 3E-9 | PubMed |
| Albumin levels | C | OR 0.11 | 4E-9 | PubMed |
Sources
- dbSNP: rs2638315 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies