Table 4.

Frequencies of psychiatric and medical issues in 15q11.2 CNV carriers estimated based on case–control studies and reported in clinical series

Diagnosis	Frequencies in deletion			Frequencies in duplication
	Estimates using OR		Reported in clinical series (n=326)	Estimates using OR		Reported in clinical series (n=176)
	Original controls	UKBB controls		Original controls	UKBB controls
ASD	1.9%	2.4%	12.9%	2.3%	2.4%	13.6%
ID	5.4% (1.7 to 3.9)	3.5 % (1.4 to 2.2)	42.3%	3.2%	1.9%	35.2%
Epilepsy	3.5 % (2.6 to 9.3)	2.1% (2.0 to 4.5)	15.3%	2.8%	2.9%	14.2%
CHD	4.5% (1.7 to 12.3)	1.4%	8.9%	–	–	5.7%

Frequencies are computed by multiplying the RR by the frequency of the condition of interest in the general population (see the section Methods). Frequency (or penetrance) estimates in bold are those associated with a significantly increased RR (95%CI). If the RR is not significantly increased, the corresponding frequency is in italic. Of note RR and OR presented in figures 1 and 2 are very similar. There are no case–control association studies calculating the enrichment of duplications in CHD cohorts.

ASD, autism spectrum disorder; CHD, congenital heart disease; ID, intellectual disability; OR, odds ratio; UKBB, UK BIOBANK.