Who was studied 164,454 European ancestry individuals.
The effect
Each copy of the T allele shifted the measure 0.0399 lower (95% confidence interval 0.033-0.047); p = 1 × 10−28.
How common The T allele had a frequency of about 53% in the people studied.
Where it sits Chromosome 14, band 14q24.1 — in an intron of ACTN1.
What each result means
C/CPublished research associates this genotype with typical/baseline likelihood of Mean platelet volume — no copies of the reported risk allele.
C/TPublished research associates this genotype (one copy of the reported risk allele) with an intermediate association with Mean platelet volume.
T/TPublished research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Mean platelet volume compared to the general population.
rs2073307 is a single position in the genome, in or near the ACTN1 gene. Published research associates it with mean platelet volume. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs2073307 linked to?
On MyGeneLog this position is linked to Blood Cell Counts. The research behind each link, and its sources, are set out on that condition page.
Does having rs2073307 mean I will get this?
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
Where does the information about rs2073307 come from?
GWAS Catalog, Cell 2016, PMID:27863252. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.