| Class | Consequence | Cases | Controls | Odds Ratio | Case/Control P-value | De Novos | De Novo P-value |
|---|---|---|---|---|---|---|---|
| Ⅰ | PTV | 5 | 4 | 5.02 | 0.00327 | — | — |
| Missense (MPC ≥ 3) | 0 | 0 | — | ||||
| Ⅱ | Missense (3 > MPC ≥ 2) | 0 | 0 | - | — | — |
Meta-analysis P-value: 0.00327
Meta-analysis Q-value: 0.498
| Category | Exp. SNVs | Obs. SNVs | Constraint metrics | |
|---|---|---|---|---|
| Synonymous | 435.9 | 417 | Z = 0.71 | o/e = 0.96 |
| Missense | 1017.9 | 725 | Z = 3.26 | o/e = 0.71 |
| pLoF | 76.6 | 7 | pLI = 1 | o/e = 0.09 |