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rs16891982(G;G)

From SNPedia

Generally European; Light skin; Possibly an increased risk of melanoma
Is agenotype
ofrs16891982
GeneSLC45A2
Chromosome5
Position33,951,588
Merged fromRs17855902
mentionedby
Magnitude1.1
Geno Mag Summary
(C;C) 1.1 generally non-European, but if European, 7x more likely to have black hair
(C;G) 2 if European, 7x more likely to have black hair
(G;G) 1.1 Generally European; Light skin; Possibly an increased risk of melanoma

This SNP is associated with skin, hair, and eye colour, and risk of melanoma. Individuals with the G;G genotype are generally of European descent and have fair skin.


[PMID 19710684OA-icon.png] In a population-based case-control study investigating a number of pigmentation-related SNPs and their correlation with cutaneous malignant melanoma (CMM) in a Caucasian Australian population, rs16891982 (variant F374L) was found to be associated with odds ratios of 3.44, 2.86, 1.68, and 1.68 for all study subjects (1,738 CMM cases and 4,517 controls); subjects with northern European ancestry (1,438 cases and 3,098 controls); northern European subjects adjusted for hair, eye, and skin colour; and northern European subjects adjusted for the MC1R genotype, respectively (p<0.001 for all).