Table 6. Burden analysis of CNTNAP2 ultra-rare variants (URVs) in ASD and SCZ.
N Individuals | N Pathogenic URVs | P-Value | |
---|---|---|---|
Controls | 13,042 | 59 | |
SCZ | 6,135 | 26 | 0.78 |
ASD | 4,483 | 29 | 0.11 |
The selection of variants included missense variants which are predicted to be pathogenic, truncating variants and canonical splice-site variants. The full list of URVs observed is provided in S3 Table. Abbreviations: SCZ, schizophrenia; ASD, autism spectrum disorder.