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Optic disc area

COL8A1 · rs1997404

Where this position leads

Condition: Glaucoma

rs1997404 Condition: Glaucoma Glaucoma Condition rs1997404 rs1997404 COL8A1

What the study found

Who was studied 20,373 European ancestry individuals, 2,131 Erasmus Rucphen (founder/genetic isolate) individuals; replicated in 7,302 Asian ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.024 higher (95% confidence interval 0.016-0.032); p = 9 × 10−9.

Where it sits Chromosome 3, band 3q12.1 — in an intron of LOC105374007.

What each result means

G/G Two copies of the version the research linked to Optic disc area. That is the strongest link of the three results. A link in a study is not a diagnosis.
G/T One copy of the version the research linked to Optic disc area. That is a smaller link than two copies.
T/T No copy of the version the research linked to Optic disc area. This is the starting point the study compared everyone against.
Source

Questions about rs1997404

What is rs1997404?

rs1997404 is a single position in the genome, in or near the COL8A1 gene. Published research associates it with optic disc area. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1997404 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 rs1997404 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 rs1997404 come from?

GWAS Catalog, Hum Mol Genet 2017, PMID:28073927. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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.

Optic disc area (rs1997404). MyGeneLog™. https://www.mygenelog.com/variants/rs1997404

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