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Who was studied 47,745 European ancestry individuals.
The effect
Each copy of the C allele shifted the measure 0.384 higher (95% confidence interval 0.26-0.51); p = 2 × 10−12.
How common The C allele had a frequency of about 0% in the people studied.
Where it sits Chromosome 17, band 17p11.2 — between genes, 1.3 kb from TOP3A.
What each result means
C/CTwo copies of the version the research linked to SHMT1 protein levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/TOne copy of the version the research linked to SHMT1 protein levels. That is a smaller link than two copies.
T/TNo copy of the version the research linked to SHMT1 protein levels. This is the starting point the study compared everyone against.
Nature genetics · 2025 · PMID 39789286 · open access
Questions about rs186039332
What is rs186039332?
rs186039332 is a single position in the genome, in or near the near TOP3A gene. Published research associates it with shmt1 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 rs186039332 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 rs186039332 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 rs186039332 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.
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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.
SHMT1 protein levels (rs186039332). MyGeneLog™. https://www.mygenelog.com/variants/rs186039332