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Stands on its own.
Nothing else here links to this position yet — but the page above is the point: what the
research found, what each genotype means, and where it came from, in language you can
read. Links to conditions, drugs and the senses appear automatically if we write them.
What the study found
Who was studied 42,629 European, South Asian, African American or Afro-Caribbean and other admixed ancestry female cases, 740,619 European, South Asian, African American or Afro-Caribbean and other admixed ancestry female cases female controls.
The effect
Each copy of the C allele carried 1.13 times the odds of Female infertility (all causes) (95% confidence interval 1.1-1.16); p = 4 × 10−15.
How common The C allele had a frequency of about 6% in the people studied.
Where it sits Chromosome 8, band 8q23.1 — in an intron of PKHD1L1.
What each result means
C/CTwo copies of the version the research linked to Female infertility (all causes). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/TOne copy of the version the research linked to Female infertility (all causes). That is a smaller link than two copies.
T/TNo copy of the version the research linked to Female infertility (all causes). This is the starting point the study compared everyone against.
Nature genetics · 2025 · PMID 40229599 · open access
Questions about rs9643050
What is rs9643050?
rs9643050 is a single position in the genome, in or near the PKHD1L1 gene. Published research associates it with female infertility (all causes). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs9643050 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 rs9643050 come from?
GWAS Catalog, Nature genetics 2025, PMID:40229599. 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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