To understand the possible relationship of EPAS1 and the abovementioned HIF-1a SNPs to FDG uptake, we analyzed the only two EPAS1 missense mutations (rs137853037 and rs137853036) with probable pathogenicity as described in the dbSNP Short Genetic Variations database and in the Human Gene Mutation Database where a collection of known gene lesions responsible for human inherited diseases is found. This evidence concerns the gene EPAS1 and hereditary disease.