Table 3.
Group (n) | Observed (expected) genotype frequency without consideration of CNVs | P HWE * | Group (n) | Observed (expected) genotype frequency with consideration of CNVs | P HWE ** | ||||
---|---|---|---|---|---|---|---|---|---|
T/T | T/C | C/C | T/T | T/C | C/C | ||||
Case (n = 216) | 182 (175.14) | 25 (38.72) | 9 (2.14) | 1.91 × 10–7 | Case (n = 126) | 99 (98.67) | 25 (25.66) | 2 (1.67) | 0.771 |
Controls (n = 192) | 152 (144.39) | 29 (44.23) | 11 (3.39) | 1.83 × 10–7 | Controls (n = 120) | 88 (87.55) | 29 (29.90) | 3 (2.55) | 0.742 |
P-value reflects Hardy Weinberg Equilibrium (HWE) before* and after** consideration of identified copy number variations (CNVs).