Table 1 Results burden test in patients with tetralogy of Fallot (TOF) (FAF < 0.01%).

From: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Variant type

Protein domain

Cases: N variants/total N

Controls: N variants/total N

Fold enrichment

P value

PTV

All

9/1,569

7/56,728

46

7 × 10-11

Missense

All

27/1,569

791/56,721

1.2

0.28

 

All extracellular

19/1,569

452/56,687

1.5

0.08

 

Ligand binding

7/1,569

116/56,791

2.2

0.049

 

Ig-like 4-7

8/1,569

256/56,711

1.1

0.70

 

Protein kinase

3/1,569

122/56,722

0.9

1

 

All intracellular

8/1,569

339/56,722

0.9

0.87

  1. Statistically significant p values after correction for multiple testing are highlighted in bold (Fisher’s exact test p < 0.007).
  2. FAF filtering allele frequency, PTV protein-truncating variant.
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