Genetic variant
rs114694170
rs114694170 is a single-letter difference in human DNA, on chromosome 5. 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 rs114694170 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Vascular Endothelial Growth Factor and Ischemic Heart Disease Risk: A Mendelian Randomization Study.
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 rs114694170, 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
- rs114694170
- Position
- chr5:88884379
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Platelet count | T | OR 0.21 | 2E-312 | PubMed |
| Platelet count (UKB data field 30080) | C | OR 0.13 | 2E-273 | PubMed |
| Mean platelet volume | T | OR 0.14 | 3E-247 | PubMed |
| Mean platelet volume | T | — | 1E-242 | PubMed |
| platelet count (mean, inv-norm transformed) | T | OR 0.21 | 5E-218 | PubMed |
| Platelet count | C | OR 0.15 | 2E-202 | PubMed |
| Platelet count | C | OR 0.14 | 7E-187 | PubMed |
| Mean platelet volume | C | OR 0.14 | 2E-178 | PubMed |
| platelet count (minimum, inv-norm transformed) | T | OR 0.18 | 3E-175 | PubMed |
| Platelet distribution width (UKB data field 30110) | C | OR 0.11 | 4E-174 | PubMed |
| mean platelet volume (MPV, mean, inv-norm transformed) | T | OR 0.2 | 3E-161 | PubMed |
| mean platelet volume (MPV, maximum, inv-norm transformed) | T | OR 0.19 | 9E-150 | PubMed |
| platelet count (maximum, inv-norm transformed) | T | OR 0.17 | 1E-133 | PubMed |
| mean platelet volume (MPV, minimum, inv-norm transformed) | T | OR 0.18 | 2E-127 | PubMed |
| Platelet count | T | — | 2E-126 | PubMed |
| Platelet distribution width | C | OR 0.11 | 1E-116 | PubMed |
| platelet count (mean, inv-norm transformed) | T | OR 0.2 | 3E-104 | PubMed |
| Platelet count | C | OR 0.16 | 9E-96 | PubMed |
| platelet count (minimum, inv-norm transformed) | T | OR 0.18 | 3E-95 | PubMed |
| Platelet crit (UKB data field 30090) | C | β 0.072 | 4E-82 | PubMed |
Sources
- dbSNP: rs114694170 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies