ATP13A3 and pulmonary arterial hypertension: For example, rs71316300 (CMS = 8.4) is located in an enhancer, and rs75122941 (CMS = 8.2) is located in the promoter of ATP13A3. ATP13A3 plays important roles in lung vascular remodeling and pulmonary arterial hypertension (PAH) [43–45].