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Optic disc size

PKIA · rs6999835

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 67,040 British ancestry individuals; replicated in 28,509 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.01 higher; p = 2 × 10⁻¹⁰.

How common The T allele had a frequency of about 63% in the people studied.

Where it sits Chromosome 8, band 8q21.13 — between genes, 131 kb from PKIA-AS1.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Optic disc size — no copies of the reported risk allele.

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Optic disc size.

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

Source

Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology

Han X, Qassim A, An J, Marshall H, Zhou T, Ong JS, Hassall MM, Hysi PG, Foster PJ, Khaw PT, Mackey DA, Gharahkhani P

and 4 more — show all

Khawaja AP, Hewitt AW, Craig JE, MacGregor S

Human molecular genetics · 2019 · PMID 31809533

Questions about rs6999835

What is rs6999835?

rs6999835 is a single position in the genome, in or near the PKIA gene. Published research associates it with optic disc size. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs6999835 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 rs6999835 come from?

GWAS Catalog, Human molecular genetics 2019, PMID:31809533. 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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Optic disc size (rs6999835). MyGeneLog™. https://www.mygenelog.com/variants/rs6999835

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