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. 2018 Dec 26;14(12):e1007535. doi: 10.1371/journal.pgen.1007535

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.