Table 4.

Comparison of additive and recessive models for heterozygous, homozygous, and phased compound heterozygous pLoF and predicted deleterious missense variants for NOD2 variants (MAF < 5%) for Crohn’s Disease Risk in DiscovEHR.

NOD2 gene burden variant class	Additive OR [95% CI]	Additive P-value	Recessive OR [95% CI]	Recessive P-value	Controls (ref/het/Hom)	Cases (ref/het/Hom)
pLoF only	2.69 [2.18–3.32]	5.50 × 10–20	20.74 [10.70–40.20]	2.67 × 10–19	51,501/3254/47	529/73/11
pLoF and predicted deleterious missense	2.38 [2.01–2.82]	4.60 × 10–24	13.15 [8.50–20.37]	7.21 × 10–31	48,253/6388/161	474/115/24