Genetic variant
rs17231506
rs17231506 is a single-letter difference in human DNA, on chromosome 16. 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 rs17231506 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Regulation of cholesteryl ester transfer protein expression by upstream polymorphisms: reduced expression associated with rs247616
From SNPedia
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 rs17231506, 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
- rs17231506
- Position
- chr16:56960616
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| High density lipoprotein cholesterol levels | T | OR 0.25 | 8E-416 | PubMed |
| HDL cholesterol | T | OR 0.24 | 7E-316 | PubMed |
| High density lipoprotein cholesterol levels | C | OR 0.22 | 1E-300 | PubMed |
| Total cholesterol levels | T | β 0.06 | 9E-231 | PubMed |
| High density lipoprotein cholesterol levels | — | OR 3.07 | 9E-120 | PubMed |
| HDL cholesterol levels | C | OR 0.25 | 2E-104 | PubMed |
| Total phosphoglycerides levels | T | β 0.091 | 1E-101 | PubMed |
| Triglyceride levels | T | β 0.035 | 7E-79 | PubMed |
| Triglycerides in very large HDL | T | β 0.078 | 6E-76 | PubMed |
| Triglyceride levels | T | β 0.033 | 5E-73 | PubMed |
| Low high density lipoprotein cholesterol levels | — | — | 6E-65 | PubMed |
| Average diameter for LDL particles | T | β 0.04 | 2E-64 | PubMed |
| HDL cholesterol levels | T | OR 3.5 | 2E-61 | PubMed |
| Low high density lipoprotein cholesterol levels | — | — | 2E-49 | PubMed |
| Phospholipids to Total Lipids in IDL percentage | T | β 0.03 | 3E-41 | PubMed |
| HDL cholesterol levels | T | OR 0.25 | 5E-39 | PubMed |
| Cholesteryl Esters to Total Lipids in IDL percentage | T | β 0.03 | 2E-35 | PubMed |
| High-density lipoprotein 2 cholesterol levels | T | OR 0.21 | 1E-33 | PubMed |
| PAG1 protein levels | T | β 0.066 | 5E-30 | PubMed |
| Total cholesterol levels | C | β 0.052 | 2E-29 | PubMed |
Sources
- dbSNP: rs17231506 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies