Table 2 Functional annotation and test of the rare variants in SETX
From: Collapsing singletons may boost signal for associating rare variants in sequencing study
pValue | OR | 95% CI | pValue* | ||||||
|---|---|---|---|---|---|---|---|
Regions | # Variants (singletons) | Fisher's exact test on supervariant† | qMSAT | C-alpha | CMC | ||
SETX (CDS + UTR + INTRON) | 380(135) | 3.7 × 10−6 | 8.8 | [3.12, 27.43] | 2.0 × 10−6 | 1.0 × 10−6 | 6.0 × 10−6 |
CDS | 14(8) | 1.000 | 1.0 | [0.18, 6.94] | 1.000 | 0.544 | 0.837 |
UTR | 6(4) | 0.632 | 0.6 | [0.04, 8.60] | 1.000 | 0.662 | 0.990 |
INTRON | 360(123) | 8.8 × 10−7 | 9.5 | [3.43, 28.70] | <1.0 × 10−6 | <1.0 × 10−6 | <1.0 × 10−6 |