Further, using MAJIQ sQTL in GTEx adrenal tissue samples (N = 208) and RT-PCR quantification in two clinical sets of adrenal tissue samples from patients with adrenal hyperplasia (N = 15), we demonstrate alternative splicing of CYP11B1 as a plausible genetic mechanism of variants underlying the GWAS association. The gene discussed is CYP11B1; the disease is congenital adrenal hyperplasia.