NOD2 and Cowden disease: To analyze potential gene-dosage effects of the IVS4+10 A>C (rs72796353) variant in combination with the main CD-associated NOD2 mutants, p.Arg702Trp, p.Gly908Arg, and p.Leu1007fsX1008 (rs2066844, rs2066845, and rs2066847), we compared rs72796353 minor (C) allele carriers (n = 66) with wild-type (AA) patients (n = 1007, S5 Table).