For the 15 genes listed in Table 1, SMR tests (P < 3.33 × 10−3 were considered significant) identified that three genes (IRF6, RBM18 and KCNJ11) were significantly associated with AIS, IL16 was associated with LAS and NDST1 was associated with CES (Table 1). Here, IRF6 is linked to androgen insensitivity syndrome.