Normal allele: GG
The melanocortin 1 receptor (MC1R) gene variant is associated with an increased risk of developing melanoma of the skin, which is largely independent of skin type and hair colour.
Polymorphism rs885479 is related to topics like this:
Research and publications:
11487574 The melanocortin-1-receptor gene is the major freckle gene.
17616515 Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles.
17999355 A genomewide association study of skin pigmentation in a South Asian population.
18366057 MC1R variants, melanoma and red hair color phenotype: a meta-analysis.
19503611 The role of geography in human adaptation.
20042077 Genetic determinants of hair and eye colours in the Scottish and Danish populations.
21197618 Model-based prediction of human hair color using DNA variants.
23110848 Human pigmentation genes under environmental selection.
23744330 [Association study of MC1R gene polymorphisms with freckles in Chinese Han population from Chengdu].
23771755 Improved eye- and skin-color prediction based on 8 SNPs.
26547235 Crowdsourced direct-to-consumer genomic analysis of a family quartet.
26690364 Genetic differences among ethnic groups.
30657907 A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.
31488411 MC1R Variation in a New Mexico Population.
34698109 MC1R Is a Prognostic Marker and Its Expression Is Correlated with MSI in Colorectal Cancer.
35188998 MC1R diversity and its role in skin pigmentation variation in West Maharashtra, India.
27084066 MC1R variants in Han Chinese patients with sporadic Parkinson's disease.