Genetic variant
rs503279
rs503279 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 rs503279 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 rs503279, 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
- rs503279
- Position
- chr19:48705753
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Human milk oligosaccharide concentration (2'-fucosyllactose) | T | OR 26.14 | 1E-150 | PubMed |
| Human milk oligosaccharide concentration (lacto-N-fucopentaose-I) | T | OR 24.52 | 1E-132 | PubMed |
| Human milk oligosaccharide concentration (Fucose-bound) | T | OR 24.19 | 3E-129 | PubMed |
| Human milk oligosaccharide concentration (lacto-N-fucopentaose-II) | T | OR 22 | 3E-107 | PubMed |
| Total concentration of 19 human milk oligosaccharides | T | OR 21.05 | 2E-98 | PubMed |
| CTRC/KIRREL2 protein level ratio | — | OR 0.15 | 1E-96 | PubMed |
| Human milk oligosaccharide concentration (difucosyllactose) | T | OR 20.16 | 2E-90 | PubMed |
| Human milk oligosaccharide concentration (fucodisialyllacto-N-hexaose) | T | OR 17.97 | 3E-72 | PubMed |
| Human milk oligosaccharide concentration (3'-fucosyllactose) | T | OR 13.57 | 6E-42 | PubMed |
| Human milk oligosaccharide concentration (sialyl-lacto-N-tetraose b) | T | OR 12.45 | 1E-35 | PubMed |
| Human milk oligosaccharide concentration (difucosyllacto-N-tetrose) | T | OR 11.97 | 5E-33 | PubMed |
| Human milk oligosaccharide concentration (lacto-N-fucopentaose-III) | T | OR 11.49 | 2E-30 | PubMed |
| TGFBR2/TNFRSF1A protein level ratio | — | β 0.076 | 1E-28 | PubMed |
| Human milk oligosaccharide concentration (difucosyllacto-N-hexaose) | T | OR 11.03 | 3E-28 | PubMed |
| Human milk oligosaccharide concentration (lacto-N-tetrose) | T | OR 10.84 | 2E-27 | PubMed |
| Human milk oligosaccharide concentration (Sialic acid-bound) | T | OR 9.85 | 7E-23 | PubMed |
| Metabolic traits | C | OR 0.13 | 4E-20 | PubMed |
| Human milk oligosaccharide concentration (sialyl-lacto-N-tetraose c) | T | OR 8.05 | 8E-16 | PubMed |
| Human milk oligosaccharide concentration (3'-sialyllactose) | T | OR 7.99 | 1E-15 | PubMed |
| X-17654 levels | T | OR 0.12 | 4E-15 | PubMed |
Sources
- dbSNP: rs503279 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies