Standard

Corneal resistance factor

near HAUS4P1 · rs4537621

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 76,029 white-British ancestry individuals; replicated in 10,130 non white-British ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.0558 lower (95% confidence interval 0.038-0.074); p = 2 × 10⁻¹⁰.

How common The G allele had a frequency of about 60% in the people studied.

Where it sits Chromosome 1, band 1q24.2 — between genes, 2.1 kb from HAUS4P1.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Corneal resistance factor — 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 resistance factor.

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

Source

Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants

Jiang X, Dellepiane N, Pairo-Castineira E, Boutin T, Kumar Y, Bickmore WA, Vitart V

Communications biology · 2020 · PMID 33311554 · open access

Questions about rs4537621

What is rs4537621?

rs4537621 is a single position in the genome, in or near the near HAUS4P1 gene. Published research associates it with corneal resistance factor. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs4537621 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 rs4537621 come from?

GWAS Catalog, Communications biology 2020, PMID:33311554. 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.

Corneal resistance factor (rs4537621). MyGeneLog™. https://www.mygenelog.com/variants/rs4537621

← See all variants