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Vertical cup-disc ratio

KIF6 · rs9369127

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 89,579 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.048 lower (95% confidence interval 0.037-0.059); p = 3 × 10⁻²⁰.

Where it sits Chromosome 6, band 6p21.2 — in an intron of KIF6.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Vertical cup-disc ratio — no copies of the reported risk allele.

A/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Vertical cup-disc ratio.

T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Vertical cup-disc ratio compared to the general population.

Source

Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology

Alipanahi B, Hormozdiari F, Behsaz B, Cosentino J, McCaw ZR, Schorsch E, Sculley D, Dorfman EH, Foster PJ, Peng LH, Phene S, Hammel N

and 3 more — show all

Carroll A, Khawaja AP, McLean CY

American journal of human genetics · 2021 · PMID 34077760 · open access

Questions about rs9369127

What is rs9369127?

rs9369127 is a single position in the genome, in or near the KIF6 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.

Does having rs9369127 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 rs9369127 come from?

GWAS Catalog, American journal of human genetics 2021, PMID:34077760. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Vertical cup-disc ratio (rs9369127). MyGeneLog™. https://www.mygenelog.com/variants/rs9369127

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