HLA-A and Schwartz-Jampel syndrome: Among these SNVs, the disease susceptibility allele of rs12202296, which showed both significant association with susceptibility to CM-SJS/TEN with SOC and endogenous expression levels of HLA-A in whole blood, was associated with an increase in HLA-A expression levels (P = 2.9 × 10−17, Fig. 3d).