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Glaucoma (high intraocular pressure)

ARHGEF12 · rs1812974

Where this position leads

Condition: Glaucoma

rs1812974 Condition: Glaucoma Glaucoma Condition rs1812974 rs1812974 ARHGEF12

What the study found

Who was studied 3,376 European ancestry cases, 15,151 European ancestry controls, 1,516 East Asian ancestry cases, 32,649 East Asian ancestry controls, 252 Sub-Saharan African ancestry cases, 197 Sub-Saharan African ancestry controls.

The effect Each copy of the T allele carried 1.20 times the odds of Glaucoma (high intraocular pressure) (95% confidence interval 1.14-1.26); p = 1 × 10−9.

Where it sits Chromosome 11, band 11q23.3 — in an intron of ARHGEF12.

What each result means

C/C No copy of the version the research linked to Glaucoma (high intraocular pressure). This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Glaucoma (high intraocular pressure). That is a smaller link than two copies.
T/T Two copies of the version the research linked to Glaucoma (high intraocular pressure). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs1812974

What is rs1812974?

rs1812974 is a single position in the genome, in or near the ARHGEF12 gene. Published research associates it with glaucoma (high intraocular pressure). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1812974 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 rs1812974 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 rs1812974 come from?

GWAS Catalog, Nature communications 2021, PMID:33627673. 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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Glaucoma (high intraocular pressure) (rs1812974). MyGeneLog™. https://www.mygenelog.com/variants/rs1812974

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