Who was studied 30,155 European ancestry cases, 379,986 European ancestry controls, 1,114 East Asian ancestry cases, 172,656 East Asian ancestry controls.
The effect
Each copy of the T allele shifted the measure 0.207 higher (95% confidence interval 0.19-0.23); p = 1 × 10−82.
Where it sits Chromosome 9, band 9q22.33 — in an intron of PTCSC2.
What each result means
C/CPublished research associates this genotype with typical/baseline likelihood of Hypothyroidism — no copies of the reported risk allele.
C/TPublished research associates this genotype (one copy of the reported risk allele) with an intermediate association with Hypothyroidism.
T/TPublished research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Hypothyroidism compared to the general population.
rs7030280 is a single position in the genome, in or near the PTCSC2 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 rs7030280 linked to?
On MyGeneLog this position is linked to Hypothyroidism. The research behind each link, and its sources, are set out on that condition page.
Does having rs7030280 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 rs7030280 come from?
GWAS Catalog, Nature genetics 2021, PMID:34594039. 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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