Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes

Table 2

Total number of variants with population frequencies (gnomAD) less than 1% which occurred in at least two subjects, either in cases or controls.

Type of variants	Cases ()	Controls ()	Pearson’s chi-squared test
Missense	8838	9600	0.38
Frameshift	494	537	0.93
Stop gain/loss	361	381	0.73
Splice acceptor/donor	131	110	0.04
Total	9824	10628