Primary open angle glaucoma (multi-trait analysis)
PKHD1 · rs6458804
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Who was studied at least 29,241 European ancestry cases, at least 350,181 European ancestry controls (MTAG boosted by vertical cup-to-disc ratio and intraocular pressure samples), 6,935 Asian ancestry cases, 39,588 Asian ancestry controls, 3,281 African ancestry cases, 2,791 African ancestry controls.
The effect
Each copy of the A allele shifted the measure 0.0471 lower (95% confidence interval 0.031-0.063); p = 3 × 10−9.
Where it sits Chromosome 6, band 6p12.2 — in an intron of PKHD1.
What each result means
A/ATwo copies of the version the research linked to Primary open angle glaucoma (multi-trait analysis). That is the strongest link of the three results. A link in a study is not a diagnosis.
A/GOne copy of the version the research linked to Primary open angle glaucoma (multi-trait analysis). That is a smaller link than two copies.
G/GNo copy of the version the research linked to Primary open angle glaucoma (multi-trait analysis). This is the starting point the study compared everyone against.
Nature genetics · 2023 · PMID 37386247 · open access
Questions about rs6458804
What is rs6458804?
rs6458804 is a single position in the genome, in or near the PKHD1 gene. Published research associates it with primary open angle glaucoma (multi-trait analysis). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs6458804 linked to?
On MyGeneLog this position is linked to Glaucoma. The research behind each link, and its sources, are set out on that condition page.
Does having rs6458804 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 rs6458804 come from?
GWAS Catalog, Nature genetics 2023, PMID:37386247. 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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Primary open angle glaucoma (multi-trait analysis) (rs6458804). MyGeneLog™. https://www.mygenelog.com/variants/rs6458804