Fig. 7.

ClinVar genes show significant S-PrediXcan associations. Genes implicated in ClinVar tended to be more significant in S-PrediXcan for most diseases tested, except for schizophrenia and autism. This suggests that more moderate alteration of monogenic disease genes may contribute in a continuum of more moderate but related phenotypes. Alternatively, a more complex interplay between common and rare variation could be taking place such as higher tolerance to loss of function mutations in lower expressing haplotypes which could induce association with predicted expression. Blue circles correspond to the QQ plot of genes in ClinVar that were annotated with the phenotype and black circles correspond to all genes