This identified one new locus at 22q12.1-CHEK2 where the T allele (frequency = 0.3%) of lead variant rs62237617 was perfectly correlated (r2 = 1) with the 1100delC CHEK2 protein-truncating allele (rs555607708) and conferred a large increase in risk of DNMT3A mutation-associated CH (OR = 4.1, 95% confidence interval (95% CI): 2.7–6.1, P = 6.3 × 10−12). Here, CHEK2 is linked to cyclic hematopoiesis.