Additional examples of clinically important variations that were overrepresented >3-fold in Europeans include rs28929474 (p.Glu366Lys) in SERPINA1, rs116987552 (p.Arg50Ter) in PYGM, and rs1800546 (p.Ala150Pro) in ALDOB, which cause Alpha1 anti-trypsin deficiency (OMIM 613490), McArdle disease (OMIM 232600), and hereditary fructose intolerance (OMIM 229600), respectively. The gene discussed is ALDOB; the disease is glycogen storage disease V.