Table 1 Mutational burden analysis of FBN1 variants in congenital scoliosis.

From: Identification of novel FBN1 variations implicated in congenital scoliosis

VariantTotal number of variantsNumber of alternative allelesOR (95% CI)P value
Congenital scoliosis (n = 574)In-house control (n = 828)
Total3016141.6 (0.8–3.2)0.15
CADD score < 20198111.0 (0.4–2.6)0.55
 Frameshift1010.60
 Splicing1100.41
 Missense177101.0 (0.4–2.7)0.60
CADD score ≥  2011833.9 (1.0–14.6)0.03
 Missense11833.9 (1.0–14.6)0.03
  1. Association in the allelic model was calculated using Fisher’s exact test. P value < 0.05 was considered statistically significant
  2. OR odds ratio, CI confidence interval, CADD Combined Annotation Dependent Depletion