Standard

Cutaneous melanoma or hair colour

MARK3 · rs2273699

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, 352,662 European ancestry individuals.

The effect The reported allele is A; the catalogue records no effect size ; p = 1 × 10⁻¹⁶.

How common The A allele had a frequency of about 65% in the people studied.

Where it sits Chromosome 14, band 14q32.32 — at a splice region of MARK3.

What ClinVar records

Classification Benign for Visual impairment and progressive phthisis bulbi, MARK3-related disorder, Hepatocellular carcinoma, Malignant lymphoma, large B-cell, diffuse; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2021-09-05. ClinVar record 1321158 NM_001128918.3(MARK3):c.413-4A>G

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A Two copies of the version the research linked to Cutaneous melanoma or hair colour. 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 Cutaneous melanoma or hair colour. That is a smaller link than two copies.

G/G No copy of the version the research linked to Cutaneous melanoma or hair colour. 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 rs2273699

What is rs2273699?

rs2273699 is a single position in the genome, in or near the MARK3 gene. Published research associates it with cutaneous melanoma or hair colour. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2273699 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 rs2273699 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 melanoma or hair colour (rs2273699). MyGeneLog™. https://www.mygenelog.com/variants/rs2273699

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