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Corneal hysteresis

MOCS2 · rs27323

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 106,041 European ancestry individuals; replicated in 9,029 European ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.114 higher (95% confidence interval 0.1-0.13); p = 5 × 10⁻⁶⁰.

How common The G allele had a frequency of about 39% in the people studied.

Where it sits Chromosome 5, band 5q11.2 — between genes, 49.2 kb from RPL13AP13.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Corneal hysteresis — no copies of the reported risk allele.

A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Corneal hysteresis.

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

Source

Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic etiology of ocular diseases

Simcoe MJ, Khawaja AP, Hysi PG, Hammond CJ

UK Biobank Eye and Vision Consortium

Human molecular genetics · 2020 · PMID 32716492 · open access

Questions about rs27323

What is rs27323?

rs27323 is a single position in the genome, in or near the MOCS2 gene. Published research associates it with corneal hysteresis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs27323 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 rs27323 come from?

GWAS Catalog, Hum Mol Genet 2020, PMID:32716492. 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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Corneal hysteresis (rs27323). MyGeneLog™. https://www.mygenelog.com/variants/rs27323

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