Standard

Mean corpuscular volume

RPA1 · rs5030755

Where this position leads

Condition: Blood Cell Counts

rs5030755 Condition: Blood Cell Counts Blood Cell Counts Condition rs5030755 rs5030755 RPA1

What the study found

Who was studied 172,433 European ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.0354 lower (95% confidence interval 0.025-0.046); p = 9 × 10−11.

How common The G allele had a frequency of about 12% in the people studied.

Where it sits Chromosome 17, band 17p13.3 — a missense change in RPA1.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Mean corpuscular volume — no copies of the reported risk allele.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Mean corpuscular volume.
G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Mean corpuscular volume compared to the general population.
Source

Questions about rs5030755

What is rs5030755?

rs5030755 is a single position in the genome, in or near the RPA1 gene. Published research associates it with mean corpuscular 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 rs5030755 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 rs5030755 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 rs5030755 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.

Quoting this page

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Mean corpuscular volume (rs5030755). MyGeneLog™. https://www.mygenelog.com/variants/rs5030755

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