| Class | Consequence | Cases | Controls | Odds Ratio | Case/Control P-value | De Novos | De Novo P-value |
|---|---|---|---|---|---|---|---|
| Ⅰ | PTV | 8 | 1 | 44.2 | 0.0000101 | 3 | 0.00000862 |
| Missense (MPC ≥ 3) | 2 | 0 | — | ||||
| Ⅱ | Missense (3 > MPC ≥ 2) | 7 | 16 | 1.76 | 0.261 | — |
Meta-analysis P-value: 2.01e-9
Meta-analysis Q-value: 0.0000182
| Category | Exp. SNVs | Obs. SNVs | Constraint metrics | |
|---|---|---|---|---|
| Synonymous | 163.6 | 167 | Z = -0.21 | o/e = 1.02 |
| Missense | 423 | 93 | Z = 5.7 | o/e = 0.22 |
| pLoF | 53.9 | 3 | pLI = 1 | o/e = 0.06 |