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CELA3A protein levels

USP48 · rs1059218

Where this position leads

Condition: Celiac Disease

rs1059218 Condition: Celiac Disease Celiac Disease Condition rs1059218 rs1059218 USP48

What the study found

Who was studied 47,745 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0362 lower (95% confidence interval 0.024-0.048); p = 1 × 10−11.

How common The T allele had a frequency of about 30% in the people studied.

Where it sits Chromosome 1, band 1p36.12 — in the 3′ untranslated region of USP48.

What each result means

C/C No copy of the version the research linked to CELA3A protein levels. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to CELA3A protein levels. That is a smaller link than two copies.
T/T Two copies of the version the research linked to CELA3A protein levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs1059218

What is rs1059218?

rs1059218 is a single position in the genome, in or near the USP48 gene. Published research associates it with cela3a 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 rs1059218 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 rs1059218 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 rs1059218 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

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

CELA3A protein levels (rs1059218). MyGeneLog™. https://www.mygenelog.com/variants/rs1059218

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