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Mean corpuscular volume (UKB data field 30040)

C2CD2L · rs72999357

Where this position leads

Condition: Celiac Disease

rs72999357 Condition: Celiac Disease Celiac Disease Condition rs72999357 rs72999357 C2CD2L

What the study found

Who was studied 394,642 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0621 higher (95% confidence interval 0.043-0.081); p = 1 × 10−11.

How common The A allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 11, band 11q23.3 — in an intron of C2CD2L.

What each result means

A/A 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.
A/G One copy of the version the research linked to Mean corpuscular volume (UKB data field 30040). That is a smaller link than two copies.
G/G 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.
Source

Questions about rs72999357

What is rs72999357?

rs72999357 is a single position in the genome, in or near the C2CD2L 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 rs72999357 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 rs72999357 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 rs72999357 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) (rs72999357). MyGeneLog™. https://www.mygenelog.com/variants/rs72999357

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