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Intraocular pressure

LTBP2 · rs74384554

Where this position leads

What the study found

Who was studied 139,555 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.417 higher (95% confidence interval 0.3-0.54); p = 1 × 10⁻¹¹.

How common The T allele had a frequency of about 99% in the people studied.

Where it sits Chromosome 14, band 14q24.3 — in the 3′ untranslated region of LTBP2.

What ClinVar records

Classification Conflicting classifications of pathogenicity for Weill-Marchesani syndrome, Glaucoma 3, primary congenital, D; criteria provided, conflicting classifications (1 of 4 stars, 3 submitters), last evaluated 2023-07-01. ClinVar record 886320 NM_000428.3(LTBP2):c.*2684A>G

What this is ClinVar's aggregate record for this position (as of its 2026-10-05 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

C/C Published research associates this genotype with typical/baseline likelihood of Intraocular pressure — 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 Intraocular pressure.

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

Source

Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma

Khawaja AP, Cooke Bailey JN, Wareham NJ, Scott RA, Simcoe M, Igo RP Jr, Song YE, Wojciechowski R, Cheng CY, Khaw PT, Pasquale LR, Haines JL

and 4 more — show all

Foster PJ, Wiggs JL, Hammond CJ, Hysi PG

UK Biobank Eye and Vision Consortium · NEIGHBORHOOD Consortium

Nature genetics · 2018 · PMID 29785010 · open access

Questions about rs74384554

What is rs74384554?

rs74384554 is a single position in the genome, in or near the LTBP2 gene. Published research associates it with 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 rs74384554 linked to?

On MyGeneLog this position is linked to Intraocular Pressure. The research behind each link, and its sources, are set out on that condition page.

Does having rs74384554 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 rs74384554 come from?

GWAS Catalog, Nat Genet 2018, PMID:29785010. 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.

Intraocular pressure (rs74384554). MyGeneLog™. https://www.mygenelog.com/variants/rs74384554

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