Extended Data Fig. 5: Replications with UKBB data.
From: Mono- and biallelic variant effects on disease at biobank scale
We replicated the 31 recessive associations in FinnGen in the UKBB26 with a recessive model in SAiGE23. Of the 31 variants, 13 had ≥ 5 homozygotes in the UKBB of which 8 had a significant recessive p-value in UKBB for the same/similar phenotype. Here, we show recessive betas in FinnGen versus UKBB (betas set to 5, when beta > 5). Plot size corresponds to MAF in gnomAD non-Finnish Europeans and plot colour red means the recessive p-value in UKBB is < 0.05.
