Genetic variant
rs28451064
rs28451064 is a single-letter difference in human DNA, on chromosome 21. 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 rs28451064 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Functional Analysis of the Coronary Heart Disease Risk Locus on Chromosome 21q22.
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 rs28451064, 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
- rs28451064
- Position
- chr21:34221526
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Coronary atherosclerosis (PheCode 411.4) | G | OR 0.11 | 2E-51 | PubMed |
| Coronary artery disease | A | OR 1.12 | 2E-46 | PubMed |
| Ischemic heart disease (PheCode 411) | G | β 0.094 | 1E-42 | PubMed |
| Coronary artery disease | A | OR 0.11 | 3E-33 | PubMed |
| Coronary artery disease | A | OR 0.12 | 7E-33 | PubMed |
| Coronary artery disease | A | OR 0.12 | 7E-33 | PubMed |
| Coronary atherosclerosis (PheCode 411.4) | G | OR 0.11 | 3E-29 | PubMed |
| Coronary artery disease or fibrinogen levels (pleiotropy) | — | — | 3E-27 | PubMed |
| Other chronic ischemic heart disease, unspecified (PheCode 411.8) | G | OR 0.12 | 3E-27 | PubMed |
| Coronary artery disease or von Willebrand factor levels (pleiotropy) | — | — | 7E-27 | PubMed |
| Coronary artery disease or factor VIII levels (pleiotropy) | — | — | 8E-27 | PubMed |
| Coronary artery disease or factor XI levels (pleiotropy) | — | — | 9E-27 | PubMed |
| Coronary artery disease or factor VII levels (pleiotropy) | — | — | 9E-27 | PubMed |
| Ischemic heart disease (PheCode 411) | G | β 0.092 | 2E-23 | PubMed |
| Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) | A | OR 1.14 | 3E-23 | PubMed |
| Spontaneous coronary artery dissection | G | OR 2.04 | 1E-22 | PubMed |
| Myocardial infarction | A | OR 1.12 | 3E-22 | PubMed |
| Heart failure (MTAG) | A | OR 9.13 | 7E-20 | PubMed |
| Myocardial infarction | — | OR 0.9 | 1E-19 | PubMed |
| Myocardial infarction | A | OR 0.15 | 3E-19 | PubMed |
Sources
- dbSNP: rs28451064 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies