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Cohort 1: Discovery 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 | 16 | 5 | 0.200 | 3.007 | 1.213–8.708 |
| Benign | 5 | 5 | 0.876 | 1.000 | 0.296–3.377 |
| Hypomorph | 5 | 0 | 0.030 | 10.987 | 1.249–999 |
| Loss of function | 6 | 0 | 0.015 | 13.084 | 1.539–999 |
aUltra-rare MAF < 0.1% (sequence kernel association test, SKAT-O).
