| Class | Consequence | Cases | Controls | Odds Ratio | Case/Control P-value | De Novos | De Novo P-value |
|---|---|---|---|---|---|---|---|
| Ⅰ | PTV | 0 | 5 | 0 | 0.617 | — | — |
| Missense (MPC ≥ 3) | 0 | 0 | — | ||||
| Ⅱ | Missense (3 > MPC ≥ 2) | 3 | 6 | 2.01 | 0.418 | — |
Meta-analysis P-value: 0.617
Meta-analysis Q-value: 1.00
| Category | Exp. SNVs | Obs. SNVs | Constraint metrics | |
|---|---|---|---|---|
| Synonymous | 48.6 | 35 | Z = 1.53 | o/e = 0.72 |
| Missense | 129.1 | 77 | Z = 1.63 | o/e = 0.6 |
| pLoF | 9.4 | 4 | pLI = 0.02 | o/e = 0.42 |