| Class | Consequence | Cases | Controls | Odds Ratio | Case/Control P-value | De Novos | De Novo P-value |
|---|---|---|---|---|---|---|---|
| Ⅰ | PTV | 0 | 2 | 0 | 1.00 | — | — |
| Missense (MPC ≥ 3) | 0 | 0 | — | ||||
| Ⅱ | Missense (3 > MPC ≥ 2) | 0 | 0 | - | — | — |
Meta-analysis P-value: 1.00
Meta-analysis Q-value: 1.00
| Category | Exp. SNVs | Obs. SNVs | Constraint metrics | |
|---|---|---|---|---|
| Synonymous | 95.1 | 91 | Z = 0.33 | o/e = 0.96 |
| Missense | 279 | 201 | Z = 1.66 | o/e = 0.72 |
| pLoF | 25.9 | 4 | pLI = 0.92 | o/e = 0.15 |