The individuals with heterozygous/mutant genotype had a higher risk of developing MLL-AFF1 positive leukemia (OR 2.79, 95% CI: 1.27-6.11) and even higher odds of MLL-MLLT3 positive leukemia (OR 7.10, 95% CI: 1.54-32.68). The gene discussed is AFF1; the disease is leukemia.