Variant type | WES cohort | WGS cohort | ||||
---|---|---|---|---|---|---|
Case (n = 1555) | Control (n = 2234) | P value | Case (n = 1962) | Control (n = 1279) | P value | |
All | 25 | 11 | 0.0001 | 19 | 12 | 0.70 |
Synonymous | 6 | 6 | 0.16 | 7 | 5 | 0.93 |
Loss of function | 5 | 0 | 0.008 | 0 | 0 | > 0.99 |
Missense | 14 | 5 | 0.0009 | 12 | 7 | 0.55 |
Protein-altering | 19 | 5 | < 0.0001 | 12 | 7 | 0.55 |
Deleterious | 19 | 3 | < 0.0001 | 10 | 3 | 0.33 |