We identified 28 significant associations between mQTLs and AMD at 7 GWAS loci (SMR P-value < 5.68×10−7 after Bonferroni correction) (Supplementary Table 18); of which, 5 associations at 3 loci (KMT2E/SRPK2, PILRB/PILRA and ARMS2/HTRA1) passed the linkage test (HEIDI P-value > 0.05) and are thus likely to be pleiotropic (Fig. 4b). The gene discussed is KMT2E; the disease is age-related macular degeneration.