Four SNPs were more prevalent (in ABCA2, OTX2-AS1, HLA-V, and PDE4DIP genes) and 5 were less prevalent (in RPTN, CYP2B6, OR51Q1, FTCD, and rs9828758 near RP11 genes) in mastocytosis patients compared to a control cohort. The gene discussed is RPTN; the disease is mastocytosis.