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Who was studied 98,805 European ancestry cases, 948,186 European ancestry controls, 14,588 cases, 117,082 controls; replicated in 34,835 European ancestry cases, 492,149 European ancestry controls.
The effect
Each copy of the G allele shifted the measure 0.045 higher (95% confidence interval 0.035-0.055); p = 9 × 10−18.
How common The G allele had a frequency of about 30% in the people studied.
Where it sits Chromosome 7, band 7q11.23 — in an intron of PTPN12.
What each result means
A/ANo copy of the version the research linked to Hypothyroidism. This is the starting point the study compared everyone against.
A/GOne copy of the version the research linked to Hypothyroidism. That is a smaller link than two copies.
G/GTwo copies of the version the research linked to Hypothyroidism. That is the strongest link of the three results. A link in a study is not a diagnosis.
Nature genetics · 2025 · PMID 41238958 · open access
Questions about rs62476229
What is rs62476229?
rs62476229 is a single position in the genome, in or near the PTPN12 gene. Published research associates it with hypothyroidism. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs62476229 linked to?
On MyGeneLog this position is linked to Hypothyroidism, Thyroid Stimulating Hormone (TSH) Levels. The research behind each link, and its sources, are set out on that condition page.
Does having rs62476229 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 rs62476229 come from?
GWAS Catalog, Nature genetics 2025, PMID:41238958. 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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