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

From: Identification of novel FBN1 variations implicated in congenital scoliosis

Variant

Total number of variants

Number of alternative alleles

OR (95% CI)

P value

Congenital scoliosis (n = 574)

In-house control (n = 828)

Total

30

16

14

1.6 (0.8–3.2)

0.15

CADD score < 20

19

8

11

1.0 (0.4–2.6)

0.55

 Frameshift

1

0

1

–

0.60

 Splicing

1

1

0

–

0.41

 Missense

17

7

10

1.0 (0.4–2.7)

0.60

CADD score ≥  20

11

8

3

3.9 (1.0–14.6)

0.03

 Missense

11

8

3

3.9 (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
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