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Mean corpuscular volume (UKB data field 30040)

USP49 · rs34718512

Where this position leads

Condition: Celiac Disease

rs34718512 Condition: Celiac Disease Celiac Disease Condition rs34718512 rs34718512 USP49

What the study found

Who was studied 394,642 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.108 lower (95% confidence interval 0.096-0.119); p = 5 × 10−81.

How common The T allele had a frequency of about 3% in the people studied.

Where it sits Chromosome 6, band 6p21.1 — in an intron of USP49.

What each result means

C/C No copy of the version the research linked to Mean corpuscular volume (UKB data field 30040). This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Mean corpuscular volume (UKB data field 30040). That is a smaller link than two copies.
T/T Two copies of the version the research linked to Mean corpuscular volume (UKB data field 30040). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs34718512

What is rs34718512?

rs34718512 is a single position in the genome, in or near the USP49 gene. Published research associates it with mean corpuscular volume (ukb data field 30040). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs34718512 linked to?

On MyGeneLog this position is linked to Celiac Disease. The research behind each link, and its sources, are set out on that condition page.

Does having rs34718512 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 rs34718512 come from?

GWAS Catalog, Nature genetics 2025, PMID:39789286. 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 (UKB data field 30040) (rs34718512). MyGeneLog™. https://www.mygenelog.com/variants/rs34718512

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