These include variants that increase the risk of metabolic disorders, including hypercholesterolemia (LDLR, V827I, rs137853964), maturity-onset diabetes of the young (MODY) (BLK, A71T, rs55758736), and obesity (MC4R, A175T, rs121913563). The gene discussed is MC4R; the disease is obesity due to melanocortin 4 receptor deficiency.