Genetic variant
rs2247056
rs2247056 is a single-letter difference in human DNA, on chromosome 6. 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 rs2247056 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 rs2247056, 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
- rs2247056
- Position
- chr6:31297713
Genome-wide association studies (18)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| CKAP4/TNFRSF4 protein level ratio | — | OR 0.14 | 1E-81 | PubMed |
| Polyunsaturated fatty acid levels | T | — | 7E-46 | PubMed |
| DAG1/HBEGF protein level ratio | — | OR 0.1 | 7E-42 | PubMed |
| Omega-6 fatty acid levels | T | — | 5E-40 | PubMed |
| Linoleic acid levels | T | — | 3E-36 | PubMed |
| HBEGF/PFKFB2 protein level ratio | — | β 0.091 | 1E-32 | PubMed |
| CXCL10/WARS protein level ratio | — | β 0.072 | 2E-22 | PubMed |
| Total cholesterol levels | T | β 0.043 | 2E-18 | PubMed |
| EGF/PPIB protein level ratio | — | β 0.065 | 3E-17 | PubMed |
| Omega-3 fatty acid levels | T | β 0.036 | 2E-16 | PubMed |
| PLXNA4/USP8 protein level ratio | — | β 0.063 | 3E-16 | PubMed |
| Triglycerides | T | OR 2.99 | 2E-15 | PubMed |
| CLEC1B/EGF protein level ratio | — | β 0.058 | 2E-14 | PubMed |
| Triglycerides | T | β 0.034 | 2E-14 | PubMed |
| EGF/MGLL protein level ratio | — | β 0.056 | 2E-13 | PubMed |
| Height | T | OR 1.18 | 4E-12 | PubMed |
| Free cholesterol levels in chylomicrons and extremely large VLDL | T | β 0.03 | 6E-12 | PubMed |
| Low density lipoprotein cholesterol levels | T | β 0.028 | 2E-8 | PubMed |
Sources
- dbSNP: rs2247056 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies