Genetic variant
rs7258249
rs7258249 is a single-letter difference in human DNA, on chromosome 19. 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 rs7258249 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 rs7258249, 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
- rs7258249
- Position
- chr19:8206837
Genome-wide association studies (16)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Sphingomyelin (d38:1) levels | A | OR 0.22 | 3E-37 | PubMed |
| Sphingolipid levels | — | β 0 | 1E-34 | PubMed |
| Monohexosylceramide (d16:1/20:0) levels | A | OR 0.25 | 6E-30 | PubMed |
| Sphingolipid levels | G | β 0 | 2E-27 | PubMed |
| Sphingomyelin (d38:1) levels | A | OR 0.23 | 2E-24 | PubMed |
| Monohexosylceramide (d16:1/22:0) levels | A | OR 0.23 | 4E-24 | PubMed |
| Sphingomyelin (d18:1/19:0, d19:1/18:0) levels | A | OR 0.19 | 3E-23 | PubMed |
| Trihexosylcermide (d18:1/20:0) levels | A | OR 0.21 | 2E-21 | PubMed |
| Trihexosylcermide (d18:1/20:0) levels | A | OR 0.19 | 2E-17 | PubMed |
| Serum metabolite levels | G | OR 0.17 | 3E-11 | PubMed |
| Sphingomyelin (d18:1/20:1, d18:2/20:0) levels in elite athletes | — | OR 0.4 | 7E-11 | PubMed |
| Sphingomyelin(38:1)_[M+H]1+ levels | A | β 0.071 | 2E-10 | PubMed |
| Red cell distribution width | A | β 0.014 | 3E-10 | PubMed |
| Palmitoyl dihydrosphingomyelin (d18:0/16:0) levels | A | β 0.065 | 3E-10 | PubMed |
| Sphingomyelin (d18:1/18:1, d18:2/18:0) levels in elite athletes | — | OR 0.32 | 3E-7 | PubMed |
| Stearoyl sphingomyelin (d18:1/18:0) levels in elite athletes | — | OR 0.31 | 3E-7 | PubMed |
Sources
- dbSNP: rs7258249 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies