Fig. 4

LD heatmaps and validation of candidate SNPs. A LD heatmaps of five tagged SNPs. Colors and values of LD heatmap in left panel correspond to D′ between markers, while those in right panel correspond to R2 between markers. D′ and R2 are widely used to evaluate LD but are poorly understood. D′ = 0.8 indicates high disequilibrium, indicating that two SNPs are co-inherited roughly 80% of the time. Low R2 in this strong LD also takes account of allele frequency. Low R2 indicates that SNPs cannot substitute for each other. Differences between D′ and R2 values also indicate a region with allelic heterogeneity. B Experimental and sequencing validation of rs3782886 in males and females, respectively. C Mutation profiles of BRAP and ALDH2 in cancer