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Uveal melanoma

TERT · rs452932

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 259 European ancestry cases, 401 European ancestry controls; replicated in 276 French cases, 184 European ancestry controls.

The effect Each copy of the C allele carried 1.72 times the odds of Uveal melanoma (95% confidence interval 1.44-2.06); p = 2 × 10⁻⁹.

How common The C allele had a frequency of about 40% in the people studied.

Where it sits Chromosome 5, band 5p15.33 — in an intron of CLPTM1L.

What each result means

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

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Uveal melanoma.

T/T Published research associates this genotype with typical/baseline likelihood of Uveal melanoma — no copies of the reported risk allele.

Source

A GWAS in uveal melanoma identifies risk polymorphisms in the <i>CLPTM1L</i> locus

Mobuchon L, Battistella A, Bardel C, Scelo G, Renoud A, Houy A, Cassoux N, Milder M, Cancel-Tassin G, Cussenot O, Delattre O, Besse C

and 4 more — show all

Boland A, Deleuze JF, Cox DG, Stern MH

NPJ genomic medicine · 2017 · PMID 28781888 · open access

Questions about rs452932

What is rs452932?

rs452932 is a single position in the genome, in or near the TERT gene. Published research associates it with uveal melanoma. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs452932 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 rs452932 come from?

GWAS Catalog, NPJ Genom Med 2017, PMID:28781888. 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.

Uveal melanoma (rs452932). MyGeneLog™. https://www.mygenelog.com/variants/rs452932

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