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Who was studied 217,530 European ancestry individuals (MTAG effective sample size boosted by osteoarthritis, rheumatoid arthritis and multiple sclerosis samples).
The effect
Each copy of the T allele shifted the measure 0.05 lower (95% confidence interval 0.042-0.058); p = 4 × 10−41.
How common The T allele had a frequency of about 83% in the people studied.
Where it sits Chromosome 1, band 1p36.12 — in an intron of CDC42.
What each result means
C/CNo copy of the version the research linked to Endometriosis (MTAG). This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Endometriosis (MTAG). That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Endometriosis (MTAG). That is the strongest link of the three results. A link in a study is not a diagnosis.
Human reproduction (Oxford, England) · 2025 · PMID 40262193 · open access
Questions about rs56319427
What is rs56319427?
rs56319427 is a single position in the genome, in or near the CDC42 gene. Published research associates it with endometriosis (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 rs56319427 linked to?
On MyGeneLog this position is linked to Endometriosis. The research behind each link, and its sources, are set out on that condition page.
Does having rs56319427 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 rs56319427 come from?
GWAS Catalog, Human reproduction (Oxford, England) 2025, PMID:40262193. 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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