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Optic disc area

F5 · rs2239854

Where this position leads

Drug: Combined hormonal contraceptives

rs2239854 Drug: Combined hormonal contraceptives Combined hormonal contraceptives Drug rs2239854 rs2239854 F5

What the study found

Who was studied 24,509 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.031 mm2 higher (95% confidence interval 0.023-0.039); p = 1 × 10−12.

How common The A allele had a frequency of about 30% in the people studied.

Where it sits Chromosome 1, band 1q24.2 — in an intron of F5.

What ClinVar records

Classification Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2021-05-11. ClinVar record 1247250 NM_000130.5(F5):c.952+76C>T

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A 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.
A/G One copy of the version the research linked to Optic disc area. That is a smaller link than two copies.
G/G 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 rs2239854

What is rs2239854?

rs2239854 is a single position in the genome, in or near the F5 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.

Does rs2239854 affect how medicines work?

F5 carries pharmacogenomic findings for Combined hormonal contraceptives. That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.

Does having rs2239854 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 rs2239854 come from?

GWAS Catalog, Communications biology 2019, PMID:31798171. 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 area (rs2239854). MyGeneLog™. https://www.mygenelog.com/variants/rs2239854

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