Meta-analysis of individual variant associations with questionnaire-reported variation in age at menarche (restricted to the ages of 9–17 years) in this discovery phase identified one signal at genome-wide statistical significance (P<5 × 10−8); this was a rare missense variant in the Alström's syndrome gene (ALMS1, rs45501594, p.T3544S, MAF 1%; P=4.6 × 10−10). The gene discussed is ALMS1; the disease is Down syndrome.