Table 3.

Cohort 2: Replication cohort, Gene-based association of PCM1 and ASZ using ultra-rare functional variants.

Subset	N variants (Cases)	N variants (Controls)	Unweighted p value	Odds ratio	95% Confidence interval
All synonymous variantsa	14	3	0.006	4.179	1.441–16.048
Benign	3	3	0.607	1.000	0.213–4.742
Hypomorph	5	0	0.015	11.003	1.249–999
Loss of function	6	0	0.007	13.181	1.539–999

^aUltra-rare MAF  <  0.1% (sequence kernel association test, SKAT-O).