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Nevus count or cutaneous melanoma

TFAP2B · rs2857482

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 36,760 European ancestry cutaneous melanoma cases, 375,188 European ancestry controls, 12,930 European ancestry individuals, 52,847 individuals.

The effect The reported allele is C; the catalogue records no effect size ; p = 3 × 10⁻¹⁰.

How common The C allele had a frequency of about 89% in the people studied.

Where it sits Chromosome 6, band 6p12.3 — in an intron of TFAP2B.

What each result means

C/C Two copies of the version the research linked to Nevus count or cutaneous melanoma. That is the strongest link of the three results. A link in a study is not a diagnosis.

C/T One copy of the version the research linked to Nevus count or cutaneous melanoma. That is a smaller link than two copies.

T/T No copy of the version the research linked to Nevus count or cutaneous melanoma. This is the starting point the study compared everyone against.

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 rs2857482

What is rs2857482?

rs2857482 is a single position in the genome, in or near the TFAP2B gene. Published research associates it with nevus count or cutaneous melanoma. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2857482 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 rs2857482 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.

Nevus count or cutaneous melanoma (rs2857482). MyGeneLog™. https://www.mygenelog.com/variants/rs2857482

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