Table 1 Case and control frequencies of collapsing models’ qualifying variants in the top three most significant genes.
From: Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82
Model | Gene | Cases | Controls | Case frequency | Control frequency | P-value |
|---|---|---|---|---|---|---|
LoF | KRT82 | 19 | 88 | 2.2% | 0.6% | 2.03E−06 |
KRTCAP3 | 9 | 30 | 1.1% | 0.2% | 1.28E−04 | |
DECR2 | 6 | 11 | 0.7% | 0.01% | 1.39E−04 | |
LoF + missense | KRT82 | 47 | 376 | 5.5% | 2.4% | 9.19E−07 |
ZNF418 | 0 | 271 | 0% | 1.7% | 1.04E−06 | |
PCCB | 2 | 321 | 0.2% | 2.1% | 1.02E−05 | |
LoF + missense + splicing | KRT82 | 51 | 404 | 6.0% | 2.6% | 2.18E−07 |
NCOA3 | 4 | 419 | 0.4% | 2.7% | 3.54E−06 | |
IGFBL1 | 0 | 214 | 0% | 1.4% | 2.67E−05 |
