Genetic variant
rs838147
rs838147 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 rs838147 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 rs838147, 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
- rs838147
- Position
- chr19:48743609
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Human milk oligosaccharide concentration (2'-fucosyllactose) | A | OR 17.68 | 6E-70 | PubMed |
| Human milk oligosaccharide concentration (Fucose-bound) | A | OR 16.74 | 6E-63 | PubMed |
| Height | A | β 0.011 | 3E-62 | PubMed |
| Human milk oligosaccharide concentration (lacto-N-fucopentaose-I) | A | OR 16.33 | 6E-60 | PubMed |
| Human milk oligosaccharide concentration (lacto-N-fucopentaose-II) | A | OR 15.1 | 2E-51 | PubMed |
| Total concentration of 19 human milk oligosaccharides | A | OR 14.87 | 6E-50 | PubMed |
| Human milk oligosaccharide concentration (difucosyllactose) | A | OR 14.11 | 3E-45 | PubMed |
| Human milk oligosaccharide concentration (fucodisialyllacto-N-hexaose) | A | OR 12.25 | 2E-34 | PubMed |
| Total fatty acid levels | G | β 0.02 | 1E-26 | PubMed |
| Human milk oligosaccharide concentration (3'-fucosyllactose) | A | OR 10.11 | 5E-24 | PubMed |
| Phosphoglycerides levels | G | β 0.02 | 6E-23 | PubMed |
| Total phospholipid levels in lipoprotein particles | G | β 0.02 | 1E-22 | PubMed |
| Phosphatidylcholine levels | G | β 0.02 | 2E-22 | PubMed |
| Total cholines levels | G | β 0.02 | 1E-20 | PubMed |
| Human milk oligosaccharide concentration (sialyl-lacto-N-tetraose b) | A | OR 9.19 | 4E-20 | PubMed |
| Total free cholesterol levels | G | β 0.02 | 5E-20 | PubMed |
| Human milk oligosaccharide concentration (difucosyllacto-N-tetrose) | A | OR 9.04 | 2E-19 | PubMed |
| Human milk oligosaccharide concentration (lacto-N-fucopentaose-III) | A | OR 8.73 | 3E-18 | PubMed |
| Human milk oligosaccharide concentration (lacto-N-tetrose) | A | OR 8.64 | 6E-18 | PubMed |
| Total cholesterol levels | G | β 0.02 | 1E-17 | PubMed |
Sources
- dbSNP: rs838147 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies