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SMPDL3A protein levels

CHPT1 · rs76186472

Where this position leads

Condition: Celiac Disease

rs76186472 Condition: Celiac Disease Celiac Disease Condition rs76186472 rs76186472 CHPT1

What the study found

Who was studied 47,745 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.167 higher (95% confidence interval 0.14-0.19); p = 1 × 10−38.

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

Where it sits Chromosome 12, band 12q23.2 — inside CHPT1.

What each result means

A/A Two copies of the version the research linked to SMPDL3A 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 SMPDL3A protein levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to SMPDL3A protein levels. This is the starting point the study compared everyone against.
Source

Questions about rs76186472

What is rs76186472?

rs76186472 is a single position in the genome, in or near the CHPT1 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 rs76186472 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 rs76186472 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 rs76186472 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.

SMPDL3A protein levels (rs76186472). MyGeneLog™. https://www.mygenelog.com/variants/rs76186472

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