Table 2 De novo variants of connectome genes identified from the two CHD cohorts.
From: De novo damaging variants associated with congenital heart diseases contribute to the connectome
Variant Category | DDD Plus Study-Sifrim 2016 (N = 1039) | PCGC-Jin 2017 (N = 2645) | Combined CHD (N = 3684) | Controls (N = 1789) | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Allele Count | OR | 95% CI | p-value | Allele Count | OR | 95% CI | p-value | Allele Count | OR | 95% CI | p-value | Allele Count | |
Total | 83 | 3.27 | 2.25, 4.77 | 2.25E-10 | 123 | 1.78 | 1.25, 2.54 | 1.08E-03 | 206 | 2.18 | 1.56, 3.05 | 1.07E-06 | 43 |
PT | 36 | 14.93 | 5.30, 42.0 | 1.06E-11 | 46 | 7.13 | 2.56, 19.8 | 2.41E-06 | 82 | 9.25 | 3.39, 25.3 | 2.13E-09 | 4 |
Missense | 42 | 2.56 | 1.57, 4.18 | 1.42E-04 | 55 | 1.25 | 0.79, 1.99 | 0.36 | 97 | 1.61 | 1.04, 2.47 | 0.03 | 27 |
D-mis | 22 | 4.49 | 1.99, 10.1 | 1.07E-04 | 30 | 2.31 | 1.05, 5.04 | 0.042 | 52 | 2.91 | 1.11, 3.90 | 2.79E-03 | 8 |
PT or D-mis | 58 | 8.14 | 4.35, 15.2 | 1.38E-14 | 76 | 3.95 | 2.14, 7.28 | 5.99E-07 | 134 | 5.08 | 2.81, 9.20 | 6.30E-11 | 12 |
Non D-mis | 20 | 1.71 | 0.91, 3.21 | 0.10 | 25 | 0.80 | 0.44, 1.46 | 0.53 | 45 | 1.05 | 0.61, 1.80 | 1.0 | 19 |
SYN | 5 | 0.67 | 0.24, 1.90 | 0.62 | 22 | 1.12 | 0.54, 2.27 | 0.86 | 27 | 1.00 | 0.51, 1.97 | 1.0 | 12 |
