| Class | Consequence | Cases | Controls | Odds Ratio | Case/Control P-value | De Novos | De Novo P-value |
|---|---|---|---|---|---|---|---|
| Ⅰ | PTV | 1 | 2 | 2.01 | 0.259 | — | — |
| Missense (MPC ≥ 3) | 0 | 0 | — | ||||
| Ⅱ | Missense (3 > MPC ≥ 2) | 1 | 13 | 0.309 | 0.297 | — |
Meta-analysis P-value: 0.259
Meta-analysis Q-value: 1.00
Note Other studies have found this gene to be associated with:
| Category | Exp. SNVs | Obs. SNVs | Constraint metrics | |
|---|---|---|---|---|
| Synonymous | 185.3 | 160 | Z = 1.46 | o/e = 0.86 |
| Missense | 477.5 | 306 | Z = 2.79 | o/e = 0.64 |
| pLoF | 38.1 | 0 | pLI = 1 | o/e = 0 |