To examine whether the brain eGWAS approach identified variants implicated in human diseases/traits, we linked the 2,596 top cerebellar eGWAS cisSNPs to the “Catalog of Published GWAS” [26], which compiles weekly search results from all published GWAS of ≥100,000 SNPs where associations of p≤1.0E-05 are reported. We identified 47 cisSNPs that were also associated with 36 diseases/traits (Table 4, Supplementary Table 9 in Dataset S1). This represents a 2.4-fold enrichment of significant cerebellar cisSNPs amongst disease/trait associated SNPs, which is significant (p<10−6) based on simulations adjusted for minor allele frequencies [3] (Text S1).
