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Who was studied 7,402 European ancestry cases, 286,892 European ancestry controls; replicated in 134,700 European ancestry cases, 2,394,699 European ancestry controls.
The effect
The reported allele is C; the catalogue records no effect size
; p = 2 × 10−16.
Where it sits Chromosome 5, band 5q32 — in an intron of PPARGC1B.
What each result means
A/ANo copy of the version the research linked to Squamous cell carcinoma (MTAG). This is the starting point the study compared everyone against.
A/COne copy of the version the research linked to Squamous cell carcinoma (MTAG). That is a smaller link than two copies.
C/CTwo copies of the version the research linked to Squamous cell carcinoma (MTAG). That is the strongest link of the three results. A link in a study is not a diagnosis.
Nature communications · 2022 · PMID 36496446 · open access
Questions about rs251465
What is rs251465?
rs251465 is a single position in the genome, in or near the PPARGC1B gene. Published research associates it with squamous cell carcinoma (mtag). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs251465 linked to?
On MyGeneLog this position is linked to Squamous Cell Carcinoma. The research behind each link, and its sources, are set out on that condition page.
Does having rs251465 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 rs251465 come from?
GWAS Catalog, Nature communications 2022, PMID:36496446. 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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