rs4753547 exemplifies a non-heterogenous gene-level cis-eQTL signal characterized by a similar effect on expression across all exons within a gene (GPR83; Fig. 5a). Conversely, rs10986468 is a significantly heterogeneous cis-eQTL signal evident in only a subset of probe sets, in this case coinciding with one of the three known alternatively spliced variants for this gene (ARPC5L; Fig. 5b). These findings implicate alternative splicing as an important mechanism in the genetic control of gene expression.
