Although gene-level collapsing analysis in the MCPS cohort did not identify any genes significantly associated with CH, the MCPS–UKB meta-analysis replicated the previously reported CHEK2 association with overall CH (flexible-damaging qualifying variant model; OR = 1.62, 95% CI = [1.43, 1.84], P = 9.50 × 10−13) and with DNMT3A-CH (flexible-damaging qualifying variant model; OR = 1.77, 95% CI = [1.50, 2.07], P = 3.18 × 10−11; Extended Data Fig. 10a,c,e and Supplementary Table 21). Here, DNMT3A is linked to cyclic hematopoiesis.