Comparing these 4 SNPs under dominant model, EPAS1-rs6756667 showed strongest association with the occurrence of AMS, while the other 3 SNPs showed relatively weak association (P = 0.003 vs. P > 0.01), which implicating at least in our tested gene SNPs, EPAS1 variants might play more important role than other genes on HIF pathway. This evidence concerns the gene EPAS1 and ablepharon macrostomia syndrome.