. 2019 Apr 11;9:5931. doi: 10.1038/s41598-019-42091-3

Table 2.

Results individual set unique burden analysis.

Variant type	Phenotype	All Cohorts				Balanced Cohorts
Variant type	Phenotype	No. of individuals	No. of SNVs	ISUB score (mean/median/sd)	p value	No. of individuals	No. of SNVs	ISUB score (mean/median/sd)	p value
DEL	Case	4244	6600	1.58/1.23/1.57	0.21	2489	4201	1.47/1.20/1.62	0.51
DEL	Control	3106	3135	1.38/1.13/1.49	0.21	2580	4025	1.42/1.21/1.20	0.51
NS	Case	4244	23,231	4.33/3.49/4.16	9.6 × 10⁻¹³⁷	2489	14,831	3.97/3.43/4.55	0.37
NS	Control	3106	11,088	2.30/1.89/2.10	9.6 × 10⁻¹³⁷	2580	14,310	3.83/3.49/2.82	0.37

Results given for analysis comprising all individuals (all cohorts; N = 7350) and for a subset of samples comprising balanced case-control cohorts only (balanced cohorts; samples from The Netherlands, Belgium and Ireland, N = 5069). P values given for logistic regression with first six principal components and country of sample origin included as covariates. DEL = deleterious variants, NS = all nonsynonymous and loss-of-function variants.