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Who was studied 392 African American or Afro-Caribbean cases, 121,065 African American or Afro-Caribbean controls, 1,904 European ancestry cases, 447,836 European ancestry controls, 226 Hispanic or Latin American cases, 59,493 Hispanic or Latin American controls.
The effect
Each copy of the G allele shifted the measure 2.8 lower (95% confidence interval 2.76-2.83); p = 5 × 10−12.
How common The G allele had a frequency of about 100% in the people studied.
Where it sits Chromosome 1, band 1p34.3 — in an intron of SF3A3.
What each result means
A/ANo copy of the version the research linked to Thyroiditis (PheCode 245). This is the starting point the study compared everyone against.
A/GOne copy of the version the research linked to Thyroiditis (PheCode 245). That is a smaller link than two copies.
G/GTwo copies of the version the research linked to Thyroiditis (PheCode 245). That is the strongest link of the three results. A link in a study is not a diagnosis.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
Questions about rs147250301
What is rs147250301?
rs147250301 is a single position in the genome, in or near the SF3A3 gene. Published research associates it with thyroiditis (phecode 245). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs147250301 linked to?
On MyGeneLog this position is linked to Thyroiditis. The research behind each link, and its sources, are set out on that condition page.
Does having rs147250301 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 rs147250301 come from?
GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
0 131426Reads by AI crawlersClaude0ChatGPT0Google · Gemini0Perplexity1Meta AI0Microsoft · Copilot4Amazon2Apple0China (ByteDance, Huawei, Baidu…)0Others6Total13Counted by the name each crawler declares; requests found to be impersonating one are left out. Google · Gemini includes Googlebot, the search crawler whose index Google also uses for its AI features. Other search engines and bots are under Others.
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