Comparison of minor allele frequency and pathogenesis among disease, neutral, and PGx variants. Box-and-whisker representation of minor allele frequency and pathogenesis among three groups of variants. Note that in (A) not all variants could find MAF data due to being missing in the 1,092 individuals from the 1000 Genomes Project. (B) SIFT uses a threshold of 0.05 to classify variants with scores lower than this value as pathogenetic. (C) (D) Both PolyPhen2 and MutPred output probability-like scores measuring pathogenesis of variants.