in cases (Figure 2). Comparison subjects had a significantly higher frequency of rare nonsynonymous variants in the cytoplasmic loop region than the cases (FET p=0.009; association test p=0.009, OR=0.43, 95%CI=0.23-0.81; WSM p=0.014). The frequency of rare nonsynonymous variants located in the exon 5 region encoding the extracellular and transmembrane domains did not differ between cases and comparison subjects (FET p=0.73, WSM p=0.80). In addition, the frequency of rare synonymous variants in exon 5 did not differ between cases and comparison subjects (FET p=0.39, WSM p=0.40).
