Genetic variant
rs281380
rs281380 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 rs281380 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 rs281380, 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
- rs281380
- Position
- chr19:48711213
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Human milk oligosaccharide concentration (2'-fucosyllactose) | T | OR 16.26 | 2E-59 | PubMed |
| Human milk oligosaccharide concentration (Fucose-bound) | T | OR 15.48 | 5E-54 | PubMed |
| Human milk oligosaccharide concentration (lacto-N-fucopentaose-I) | T | OR 15.31 | 6E-53 | PubMed |
| Human milk oligosaccharide concentration (lacto-N-fucopentaose-II) | T | OR 14.34 | 1E-46 | PubMed |
| Total concentration of 19 human milk oligosaccharides | T | OR 14.07 | 6E-45 | PubMed |
| Human milk oligosaccharide concentration (difucosyllactose) | T | OR 13.19 | 1E-39 | PubMed |
| Human milk oligosaccharide concentration (fucodisialyllacto-N-hexaose) | T | OR 12.53 | 5E-36 | PubMed |
| Estimated glomerular filtration rate (creatinine) | C | OR 9.83 | 9E-23 | PubMed |
| Human milk oligosaccharide concentration (3'-fucosyllactose) | T | OR 9.82 | 1E-22 | PubMed |
| Blood urea nitrogen levels | T | β 0.005 | 5E-19 | PubMed |
| Estimated glomerular filtration rate (creatinine) | T | β 0.002 | 2E-17 | PubMed |
| Estimated glomerular filtration rate | T | β 0.002 | 7E-17 | PubMed |
| Human milk oligosaccharide concentration (difucosyllacto-N-tetrose) | T | OR 8.04 | 9E-16 | PubMed |
| Human milk oligosaccharide concentration (sialyl-lacto-N-tetraose b) | T | OR 7.78 | 7E-15 | PubMed |
| Estimated glomerular filtration rate | T | β 0.002 | 7E-15 | PubMed |
| Human milk oligosaccharide concentration (lacto-N-fucopentaose-III) | T | OR 7.59 | 3E-14 | PubMed |
| Human milk oligosaccharide concentration (lacto-N-tetrose) | T | OR 7.39 | 2E-13 | PubMed |
| Creatinine levels (UKB data field 30700) | C | β 0.012 | 7E-13 | PubMed |
| Estimated glomerular filtration rate (creatinine) | T | β 0.002 | 9E-13 | PubMed |
| Human milk oligosaccharide concentration (difucosyllacto-N-hexaose) | T | OR 6.3 | 3E-10 | PubMed |
Sources
- dbSNP: rs281380 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies