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SMPDL3A protein levels

near RNU5E-5P · rs532035292

Where this position leads

Condition: Celiac Disease

rs532035292 Condition: Celiac Disease Celiac Disease Condition rs532035292 rs532035292 near RNU5E-5P

What the study found

Who was studied 47,745 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.757 higher (95% confidence interval 0.59-0.92); p = 3 × 10−23.

How common The A allele had a frequency of about 0% in the people studied.

Where it sits Chromosome 12, band 12q23.2 — between genes, 2.2 kb from RNU5E-5P.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of SMPDL3A protein levels compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with SMPDL3A protein levels.
G/G Published research associates this genotype with typical/baseline likelihood of SMPDL3A protein levels — no copies of the reported risk allele.
Source
A scalable variational inference approach for increased mixed-model association power
Loya H, Kalantzis G, Cooper F, Palamara PF
Nature genetics · 2025 · PMID 39789286 · open access

Questions about rs532035292

What is rs532035292?

rs532035292 is a single position in the genome, in or near the near RNU5E-5P gene. Published research associates it with smpdl3a 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 rs532035292 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 rs532035292 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 rs532035292 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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SMPDL3A protein levels (rs532035292). MyGeneLog™. https://www.mygenelog.com/variants/rs532035292

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