From: Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach
Phenotype | PheCode | Gene | Consequence | Ncase | Ncontrol | Ncase carrier | Ncontrol carrier | OR | 95% CI | P-value |
---|---|---|---|---|---|---|---|---|---|---|
Major depressive disorder | 296.22 | PTEN | Non-synonymous | 2312 | 12,869 | 8 | 8 | 9.15 | (3.03, 27.6) | 1.5 × 10–4 |
Substance addiction and disorders | 316 | KCNQ1 | Damaging missense | 446 | 14,735 | 4 | 10 | 14.63 | (4.31, 49.6) | 2.4 × 10–4 |
Mental retardation | 315.3 | PKP2 | All | 123 | 15,058 | 5 | 168 | 8.32 | (3.24, 21.4) | 3.0 × 10–4 |
Major depressive disorder | 296.22 | LDLR | Non-synonymous | 2312 | 12,869 | 35 | 105 | 2.10 | (1.42, 3.11) | 3.6 × 10–4 |
Other mental disorder | 306 | TNNI3 | PTV + damaging mis | 1759 | 13,422 | 3 | 0 | 65.85 | (1.90, 2279) | 4.2 × 10–4 |
Depression | 296.2 | CACNA1S | All | 2590 | 12,591 | 100 | 327 | 1.50 | (1.20, 1.88) | 5.8 × 10–4 |
Tobacco use disorder | 318 | PKP2 | PTV + damaging mis | 2783 | 12,398 | 5 | 2 | 15.98 | (2.41, 106) | 6.7 × 10–4 |
Substance addiction and disorders | 316 | KCNQ1 | PTV + damaging mis | 446 | 14,735 | 4 | 14 | 10.56 | (3.36, 33.2) | 7.1 × 10–4 |
Tobacco use disorder | 318 | APOB | PTV | 2783 | 12,398 | 6 | 2 | 12.99 | (2.19, 76.9) | 1.1 × 10–3 |
Somatoform disorder | 303.4 | SDHC | PTV | 130 | 15,051 | 1 | 1 | 160.70 | (8.64, 2987) | 1.1 × 10–3 |
Alcoholism | 317.1 | DSC2 | PTV | 334 | 14,847 | 2 | 3 | 34.33 | (4.68, 252) | 1.3 × 10–3 |