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Who was studied 7,360 European ancestry individuals; replicated in 4,455 European ancestry individuals.
The effect
Each copy of the T allele shifted the measure 0.01 mm2 lower (95% confidence interval 0.007-0.015); p = 1 × 10−8.
How common The T allele had a frequency of about 29% in the people studied.
Where it sits Chromosome 22, band 22q12.1 — in an intron of CHEK2.
What each result means
C/CNo copy of the version the research linked to Vertical cup-disc ratio. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Vertical cup-disc ratio. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Vertical cup-disc ratio. That is the strongest link of the three results. A link in a study is not a diagnosis.
PLoS genetics · 2010 · PMID 20548946 · open access
Questions about rs1547014
What is rs1547014?
rs1547014 is a single position in the genome, in or near the CHEK2 gene. Published research associates it with vertical cup-disc ratio. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs1547014 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 rs1547014 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 rs1547014 come from?
GWAS Catalog, PLoS Genet 2010, PMID:20548946. 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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Quoting this page
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Vertical cup-disc ratio (rs1547014). MyGeneLog™. https://www.mygenelog.com/variants/rs1547014