Class | Consequence | Cases | Controls | Odds Ratio | Case/Control P-value | De Novos | De Novo P-value |
---|---|---|---|---|---|---|---|
Ⅰ | PTV | 15 | 3 | 10.3 | 3.60e-7 | 3 | 0.0000145 |
Missense (MPC ≥ 3) | 3 | 4 | — | ||||
Ⅱ | Missense (3 > MPC ≥ 2) | 11 | 10 | 4.42 | 0.000588 | — |
Meta-analysis P-value: 2.00e-12
Meta-analysis Q-value: 3.62e-8
Category | Exp. SNVs | Obs. SNVs | Constraint metrics | |
---|---|---|---|---|
Synonymous | 464.2 | 579 | Z = -4.19 | o/e = 1.25 |
Missense | 1092.3 | 922 | Z = 1.83 | o/e = 0.84 |
pLoF | 67.2 | 4 | pLI = 1 | o/e = 0.06 |