Fig. 3: Prioritized genes from GWAS.

Summary results for loci identified through the pixel-level and FPC GWAS. For each locus, the upper seven rows summarize the strength and direction of the genetic association; cells are coloured based on the direction of the effect estimate (blue, positive beta; red, negative beta) with the scale corresponding to the Bonferroni adjusted -log10 p-value for the sentinel SNP (p-values based on a two-sided t-test, for the SNP beta in the linear regression; Bonferroni adjusted p-values shown to allow comparison across pixel-level and FPC results). The bottom 10 rows summarize locus SNPs to gene mapping evidence, based on proximity to gene boundary ( < 5kB), presence of variants that are exonic; with CADD score > 20; colocalizaition with eQTLs; or overlap chromatin-interacting regions. Implicated genes with retina-associated phenotypes in OMIM and/or in mouse models, are also indicated. For each locus, the gene stated represents the top candidate gene, i.e., the gene with the most lines of evidence for that locus (highest “evidenceScore”, see “methods”). All candidate genes are listed in Supplementary Data 6.