Class | Consequence | Cases | Controls | Odds Ratio | Case/Control P-value | De Novos | De Novo P-value |
---|---|---|---|---|---|---|---|
Ⅰ | PTV | 8 | 17 | 1.89 | 0.130 | — | — |
Missense (MPC ≥ 3) | 0 | 0 | — | ||||
Ⅱ | Missense (3 > MPC ≥ 2) | 0 | 0 | - | — | — |
Meta-analysis P-value: 0.130
Meta-analysis Q-value: 1.00
Category | Exp. SNVs | Obs. SNVs | Constraint metrics | |
---|---|---|---|---|
Synonymous | 87.6 | 89 | Z = -0.12 | o/e = 1.02 |
Missense | 237.9 | 238 | Z = 0 | o/e = 1 |
pLoF | 14.3 | 16 | pLI = 0 | o/e = 1.12 |