The rs142859678 in SERPINB7 (AF = 5.16 × 10−4, gnomAD) causes the autosomal recessive disease Nagashima-type palmoplantar keratosis, which is reported in Chinese and Japanese populations.26 We also identified that SPINK1 rs148954387 (AF = 5.38 × 10−3), a variant that leads to chronic pancreatitis,27 had a higher frequency in China (AF = 2.99 × 10−4, gnomAD). Here, SERPINB7 is linked to autosomal recessive disease.