Genetic variant
rs4500751
rs4500751 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 rs4500751 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 rs4500751, 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
- rs4500751
- Position
- chr16:15046354
Genome-wide association studies (13)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Cholesteryl ester_20:3_[M+NH4]1+ levels | T | OR 0.16 | 3E-52 | PubMed |
| Phosphatidylcholine_38:2_[M+H]1+/Phosphatidylethanolamine_41:2_[M+H]1+ levels | T | OR 0.23 | 4E-47 | PubMed |
| Phosphatidylcholine_38:3_[M+H]1+/Phosphatidylethanolamine_41:3_[M+H]1+/Phosphatidate_43:4_[M+NH4]1+ levels | T | OR 0.21 | 9E-39 | PubMed |
| Phospholipid levels (plasma) | — | β 0 | 6E-23 | PubMed |
| Phosphatidylcholine_37:3_[M+OAc]1-/Phosphatidylserine_41:2_[M-H]1- levels | T | β 0.081 | 2E-18 | PubMed |
| Phosphatidylcholine_34:2_[M+H]1+/Phosphatidylethanolamine_37:2_[M+H]1+/Phosphatidate_39:3_[M+NH4]1+ levels | T | β 0.095 | 7E-15 | PubMed |
| Fatty acid(20:3)_[M-H]1- levels | T | β 0.062 | 4E-14 | PubMed |
| Linoleic acid to total fatty acids percentage | T | — | 4E-14 | PubMed |
| Phosphatidylcholine_35:2_[M+H]1+/Phosphatidylethanolamine_38:2_[M+H]1+/Phosphatidate_40:3_[M+NH4]1+ levels | T | β 0.092 | 8E-13 | PubMed |
| Cholesteryl ester(20:3)_[M+NH4]1+ levels | T | β 0.056 | 1E-11 | PubMed |
| Phosphatidylcholine(36:3)_[M+H]1+/Phosphatidylethanolamine(39:3)_[M+H]1+/Phosphatidate(41:4)_[M+NH4]1+ levels | A | β 0.03 | 1E-11 | PubMed |
| Phosphatidylcholine(38:3)_[M+H]1+/Phosphatidylethanolamine(41:3)_[M+H]1+/Phosphatidate(43:4)_[M+NH4]1+ levels | G | OR 0.15 | 1E-11 | PubMed |
| Phosphatidylcholine(38:2)_[M+H]1+/Phosphatidylethanolamine(41:2)_[M+H]1+ levels | T | β 0.049 | 1E-11 | PubMed |
Sources
- dbSNP: rs4500751 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies