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This GWAS study finds the variant is associated with increased risk of basal cell carcinoma (BCC) in the European populations studied — cases had an allele frequency of 10.5%, controls a frequency of 8.4%.

This finding had a p-value of 2.1*10^-9, and the authors report a Bonferroni threshold of 1.6 * 10^-7. This threshold is consistent with a p-value of 0.05 and correcting for 317,00 hypotheses (Illumina HumanHap300). Using this, the p-value can be treated as .00067.

The increased risk of disease can be calculated by making some assumptions — that the 8.4% frequency represents the general population (both people who do and do not get BCC), and that the lifetime risk for BCC in Europeans is 30%. Based on these assumptions, this variant has a BCC rate of 37.5% associated with it (an increased risk of 7.5%).

BCC is rarely malignant, it is typically treated because it is invasive and destroys surrounding tissue.