Class | Consequence | Cases | Controls | Odds Ratio | Case/Control P-value | De Novos | De Novo P-value |
---|---|---|---|---|---|---|---|
Ⅰ | PTV | 6 | 38 | 0.634 | 0.238 | — | — |
Missense (MPC ≥ 3) | 0 | 0 | — | ||||
Ⅱ | Missense (3 > MPC ≥ 2) | 0 | 0 | - | — | — |
Meta-analysis P-value: 0.238
Meta-analysis Q-value: 1.00
Category | Exp. SNVs | Obs. SNVs | Constraint metrics | |
---|---|---|---|---|
Synonymous | 87.3 | 103 | Z = -1.32 | o/e = 1.18 |
Missense | 239.3 | 220 | Z = 0.44 | o/e = 0.92 |
pLoF | 27.3 | 21 | pLI = 0 | o/e = 0.77 |