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Corneal structure

COL5A1 · rs1536482

Where this position leads

What the study found

Who was studied 13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.12 lower (95% confidence interval 0.1-0.14); p = 3 × 10⁻²².

How common The A allele had a frequency of about 34% in the people studied.

Where it sits Chromosome 9, band 9q34.3 — between genes, 3.4 kb from LOC100506532.

What each result means

A/A Two copies of the version the research linked to Corneal structure. 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 Corneal structure. That is a smaller link than two copies.

G/G No copy of the version the research linked to Corneal structure. This is the starting point the study compared everyone against.

Source

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A, Hewitt AW, Koehn D, Hysi PG, Ramdas WD, Zeller T, Vithana EN

and 78 more — show all

Cornes BK, Tay WT, Tai ES, Cheng CY, Liu J, Foo JN, Saw SM, Thorleifsson G, Stefansson K, Dimasi DP, Mills RA, Mountain J, Ang W, Hoehn R, Verhoeven VJ, Grus F, Wolfs R, Castagne R, Lackner KJ, Springelkamp H, Yang J, Jonasson F, Leung DY, Chen LJ, Tham CC, Rudan I, Vatavuk Z, Hayward C, Gibson J, Cree AJ, MacLeod A, Ennis S, Polasek O, Campbell H, Wilson JF, Viswanathan AC, Fleck B, Li X, Siscovick D, Taylor KD, Rotter JI, Yazar S, Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Haines JL, Kang JH, Pasquale LR, Allingham RR, Ashley-Koch A, Mitchell P, Wang JJ, Wright AF, Pennell C, Spector TD, Young TL, Klaver CC, Martin NG, Montgomery GW, Anderson MG, Aung T, Willoughby CE, Wiggs JL, Pang CP, Thorsteinsdottir U, Lotery AJ, Hammond CJ, van Duijn CM, Hauser MA, Rabinowitz YS, Pfeiffer N, Mackey DA, Craig JE, Macgregor S, Wong TY

NEIGHBOR Consortium

Nature genetics · 2013 · PMID 23291589

What people read about alongside this

Short-sightedness and screens1

Papers in Europe PMC whose title or abstract names both this rsID and that subject. A shared paper means somebody wrote about the two together — it is not a claim that this position explains the subject.

Questions about rs1536482

What is rs1536482?

rs1536482 is a single position in the genome, in or near the COL5A1 gene. Published research associates it with corneal structure. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1536482 linked to?

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

What do people read about alongside rs1536482?

Subjects that appear in the title or abstract of the same papers as this rsID include short-sightedness and screens (1 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.

Does having rs1536482 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 rs1536482 come from?

GWAS Catalog, Nat Genet 2013, PMID:23291589. 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 structure (rs1536482). MyGeneLog™. https://www.mygenelog.com/variants/rs1536482

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