Thus, based on our field study of a relatively large population in 2012, we reevaluated 30 SNPs in 7 genes (EGLN1, EGLN3, EPAS1, HIF1A, HIF1AN, PPARA, and VEGFA) closely related to the HIF pathway according to the new 2018 scoring instructions and analyzed symptoms associated with the onset of AMS. The gene discussed is EPAS1; the disease is ablepharon macrostomia syndrome.