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Cutaneous malignant melanoma

CTD-2266L18.1 · rs12523094

Where this position leads

Condition: Cutaneous Malignant Melanoma

What the study found

Who was studied 36,760 European ancestry cases, 375,188 European ancestry controls.

The effect The reported allele is T; the catalogue records no effect size ; p = 2 × 10⁻¹².

How common The T allele had a frequency of about 57% in the people studied.

Where it sits Chromosome 5, band 5q14.3 — in an intron of ADGRV1.

What each result means

C/C No copy of the version the research linked to Cutaneous malignant melanoma. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Cutaneous malignant melanoma. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Cutaneous malignant melanoma. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Landi MT, Bishop DT, MacGregor S, Machiela MJ, Stratigos AJ, Ghiorzo P, Brossard M, Calista D, Choi J, Fargnoli MC, Zhang T, Rodolfo M

and 140 more — show all

Trower AJ, Menin C, Martinez J, Hadjisavvas A, Song L, Stefanaki I, Scolyer R, Yang R, Goldstein AM, Potrony M, Kypreou KP, Pastorino L, Queirolo P, Pellegrini C, Cattaneo L, Zawistowski M, Gimenez-Xavier P, Rodriguez A, Elefanti L, Manoukian S, Rivoltini L, Smith BH, Loizidou MA, Del Regno L, Massi D, Mandala M, Khosrotehrani K, Akslen LA, Amos CI, Andresen PA, Avril MF, Azizi E, Soyer HP, Bataille V, Dalmasso B, Bowdler LM, Burdon KP, Chen WV, Codd V, Craig JE, Dębniak T, Falchi M, Fang S, Friedman E, Simi S, Galan P, Garcia-Casado Z, Gillanders EM, Gordon S, Green A, Gruis NA, Hansson J, Harland M, Harris J, Helsing P, Henders A, Hočevar M, Höiom V, Hunter D, Ingvar C, Kumar R, Lang J, Lathrop GM, Lee JE, Li X, Lubiński J, Mackie RM, Malt M, Malvehy J, McAloney K, Mohamdi H, Molven A, Moses EK, Neale RE, Novaković S, Nyholt DR, Olsson H, Orr N, Fritsche LG, Puig-Butille JA, Qureshi AA, Radford-Smith GL, Randerson-Moor J, Requena C, Rowe C, Samani NJ, Sanna M, Schadendorf D, Schulze HJ, Simms LA, Smithers M, Song F, Swerdlow AJ, van der Stoep N, Kukutsch NA, Visconti A, Wallace L, Ward SV, Wheeler L, Sturm RA, Hutchinson A, Jones K, Malasky M, Vogt A, Zhou W, Pooley KA, Elder DE, Han J, Hicks B, Hayward NK, Kanetsky PA, Brummett C, Montgomery GW, Olsen CM, Hayward C, Dunning AM, Martin NG, Evangelou E, Mann GJ, Long G, Pharoah PDP, Easton DF, Barrett JH, Cust AE, Abecasis G, Duffy DL, Whiteman DC, Gogas H, De Nicolo A, Tucker MA, Newton-Bishop JA, Peris K, Chanock SJ, Demenais F, Brown KM, Puig S, Nagore E, Shi J, Iles MM, Law MH

GenoMEL Consortium · Q-MEGA and QTWIN Investigators · ATHENS Melanoma Study Group · 23andMe · SDH Study Group · IBD Investigators · Essen-Heidelberg Investigators · AMFS Investigators · MelaNostrum Consortium

Nature genetics · 2020 · PMID 32341527 · open access

Questions about rs12523094

What is rs12523094?

rs12523094 is a single position in the genome, in or near the CTD-2266L18.1 gene. Published research associates it with cutaneous malignant melanoma. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs12523094 linked to?

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

Does having rs12523094 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 rs12523094 come from?

GWAS Catalog, Nature genetics 2020, PMID:32341527. 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.

Cutaneous malignant melanoma (rs12523094). MyGeneLog™. https://www.mygenelog.com/variants/rs12523094

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