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Who was studied 7,554 European ancestry cases, 1,367,006 European ancestry controls, 2,201 African American cases, 159,861 African American controls.
The effect
Each copy of the A allele carried 0.91 times the odds of Sarcoidosis (95% confidence interval 0.89-0.94); p = 5 × 10−9.
How common The A allele had a frequency of about 54% in the people studied.
Where it sits Chromosome 3, band 3p26.1 — in an intron of ITPR1.
What each result means
A/ATwo copies of the version the research linked to Sarcoidosis. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/GOne copy of the version the research linked to Sarcoidosis. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Sarcoidosis. This is the starting point the study compared everyone against.
Nature communications · 2025 · PMID 40075078 · open access
Questions about rs17041517
What is rs17041517?
rs17041517 is a single position in the genome, in or near the ITPR1 gene. Published research associates it with sarcoidosis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs17041517 linked to?
On MyGeneLog this position is linked to Sarcoidosis. The research behind each link, and its sources, are set out on that condition page.
Does having rs17041517 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 rs17041517 come from?
GWAS Catalog, Nature communications 2025, PMID:40075078. 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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