In Ba/f3 cells transfected with both variant and wild-type p16INK4A, the relative ratio of the p.148 T (variant) to p.148A (wildtype) transcript increased substantially upon BCR–ABL1-mediated transformation (Supplementary Fig. 3), consistent with the increased leukaemia risk conferred by the variant allele at rs3731249. The gene discussed is CDKN2A; the disease is leukemia.