| Class | Consequence | Cases | Controls | Odds Ratio | Case/Control P-value | De Novos | De Novo P-value |
|---|---|---|---|---|---|---|---|
| Ⅰ | PTV | 9 | 6 | 6.02 | 0.0000899 | — | — |
| Missense (MPC ≥ 3) | 0 | 0 | — | ||||
| Ⅱ | Missense (3 > MPC ≥ 2) | 34 | 115 | 1.19 | 0.453 | — |
Meta-analysis P-value: 0.0000687
Meta-analysis Q-value: 0.0461
| Category | Exp. SNVs | Obs. SNVs | Constraint metrics | |
|---|---|---|---|---|
| Synonymous | 314.9 | 317 | Z = -0.09 | o/e = 1.01 |
| Missense | 700.4 | 402 | Z = 4.01 | o/e = 0.57 |
| pLoF | 45.4 | 3 | pLI = 1 | o/e = 0.07 |