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Platelet count

USP7 · rs8049394

What the study found

Who was studied 408,112 British individuals.

The effect Each copy of the A allele shifted the measure 0.0226 lower (95% confidence interval 0.017-0.028); p = 4 × 10−18.

How common The A allele had a frequency of about 25% in the people studied.

Where it sits Chromosome 16, band 16p13.2 — in an intron of USP7.

What each result means

A/A Two copies of the version the research linked to Platelet count. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Platelet count. That is a smaller link than two copies.
G/G No copy of the version the research linked to Platelet count. This is the starting point the study compared everyone against.
Source

Questions about rs8049394

What is rs8049394?

rs8049394 is a single position in the genome, in or near the USP7 gene. Published research associates it with platelet count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs8049394 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 rs8049394 come from?

GWAS Catalog, Cell 2020, PMID:32888494. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Platelet count (rs8049394). MyGeneLog™. https://www.mygenelog.com/variants/rs8049394

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