Genetic variant
rs1367117
rs1367117 is a single-letter difference in human DNA, on chromosome 2. 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 rs1367117 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 rs1367117, 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
- rs1367117
- Position
- chr2:21041028
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| LDL cholesterol | A | β 0.08 | 4E-247 | PubMed |
| LDL cholesterol | A | OR 0.12 | 1E-182 | PubMed |
| LDL cholesterol levels | A | OR 0.12 | 2E-179 | PubMed |
| Medication use for hyperlipidemia (number of purchases) | — | β 0.035 | 9E-145 | PubMed |
| Low density lipoprotein cholesterol levels | G | OR 0.12 | 1E-144 | PubMed |
| Cholesterol, total | A | β 0.1 | 3E-139 | PubMed |
| Total cholesterol levels | A | β 0.1 | 3E-136 | PubMed |
| Total cholesterol levels | G | OR 0.11 | 2E-125 | PubMed |
| LDL cholesterol | A | OR 4.05 | 4E-114 | PubMed |
| Phospholipids to Total Lipids in Large HDL percentage | A | β 0.04 | 2E-100 | PubMed |
| Total cholesterol in very small VLDL | A | β 0.09 | 2E-98 | PubMed |
| Cholesterol, total | A | OR 4.16 | 4E-96 | PubMed |
| Cholesterol esters in very small VLDL | A | β 0.085 | 4E-88 | PubMed |
| LDL cholesterol levels x short total sleep time interaction (2df test) | — | OR 3.41 | 1E-80 | PubMed |
| Triglycerides to Total Lipids in Very Large VLDL percentage | A | β 0.04 | 8E-80 | PubMed |
| Free Cholesterol to Total Lipids in Very Small VLDL percentage | A | β 0.04 | 4E-79 | PubMed |
| Free Cholesterol to Total Lipids in Very Large VLDL percentage | A | β 0.04 | 5E-75 | PubMed |
| Medication use (HMG CoA reductase inhibitors) | A | OR 0.11 | 9E-72 | PubMed |
| LDL cholesterol levels | A | OR 3.08 | 3E-64 | PubMed |
| Low density lipoprotein cholesterol levels | — | β 0.09 | 2E-60 | PubMed |
Sources
- dbSNP: rs1367117 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies