Figure 2
From: Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia
The discovery analysis single variant associations of variants which mapped to TREM2, TOMM40, and SORL1. HEXA was not included because it failed to replicate in the replication dataset. Each point represents a variant and is coloured based on functional annotation (HiCpLOF, pLOF, REVEL > 50, missense). Missense variants were not plot for SORL1 because the most significant result for this gene was in the pLOF + REVEL > 50 analysis.
