Table 3 The results from the replication variant aggregation analyses (SKAT-O) of the four genes (SORL1, HEXA, TREM2, and TOMM40) which reached significance in the discovery variant aggregation analyses.
From: Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia
Gene | pLOF + REVEL > 50 | pLOF + missense | ||
|---|---|---|---|---|
P | Nvariants | P | Nvariants | |
SORL1 | 3.64 × 10–7 | 340 | 0.0060 | 940 |
HEXA | 0.53 | 157 | 0.53 | 248 |
TREM2 | 0.061 | 34 | 7.31 × 10–8 | 158 |
TOMM40 | 0.35 | 20 | 1.37 × 10–11 | 142 |
