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Who was studied 521 African ancestry cases, 20,635 African ancestry controls, 513 Admixed American ancestry cases, 10,035 Admixed American ancestry controls, 1,675 East Asian ancestry cases, 174,935 East Asian ancestry controls, 27 Middle Eastern ancestry cases, 249 Middle Eastern ancestry controls, 654 South Asian ancestry cases, 9,325 South Asian ancestry controls, 44,908 European ancestry cases, 820,112 European ancestry controls, 112 Admixed ancestry cases, 2,653 Admixed ancestry controls, 284 cases, 6,190 controls.
The effect
Each copy of the T allele shifted the measure 0.0795 log odds ratio higher (95% confidence interval 0.055-0.104); p = 2 × 10−10.
Where it sits Chromosome 3, band 3p22.2 — in an intron of CX3CR1.
What each result means
C/CNo copy of the version the research linked to Hashimoto thyroiditis. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Hashimoto thyroiditis. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Hashimoto thyroiditis. That is the strongest link of the three results. A link in a study is not a diagnosis.
Nature genetics · 2026 · PMID 42527560 · open access
Questions about rs56391246
What is rs56391246?
rs56391246 is a single position in the genome, in or near the CX3CR1 gene. Published research associates it with hashimoto thyroiditis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs56391246 linked to?
On MyGeneLog this position is linked to Lymphocytic Thyroiditis (Hashimoto's). The research behind each link, and its sources, are set out on that condition page.
Does having rs56391246 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 rs56391246 come from?
GWAS Catalog, Nature genetics 2026, PMID:42527560. 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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