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EFCAB2 protein levels

near HNRNPU · rs60464138

Where this position leads

Condition: Celiac Disease

rs60464138 Condition: Celiac Disease Celiac Disease Condition rs60464138 rs60464138 near HNRNPU

What the study found

Who was studied 47,745 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0726 lower (95% confidence interval 0.051-0.094); p = 1 × 10−11.

How common The A allele had a frequency of about 9% in the people studied.

Where it sits Chromosome 1, band 1q44 — between genes, 37.4 kb from HNRNPU.

What each result means

A/A Two copies of the version the research linked to EFCAB2 protein levels. 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 EFCAB2 protein levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to EFCAB2 protein levels. This is the starting point the study compared everyone against.
Source

Questions about rs60464138

What is rs60464138?

rs60464138 is a single position in the genome, in or near the near HNRNPU gene. Published research associates it with efcab2 protein levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs60464138 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 rs60464138 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 rs60464138 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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EFCAB2 protein levels (rs60464138). MyGeneLog™. https://www.mygenelog.com/variants/rs60464138

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