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

Table 1

Total number of variants with population frequencies (gnomAD) less than 1% (rare variants).

Type of variant	Cases ()	Controls ()	Pearson’s chi-squared test
Missense	18225	20859	0.046
Frameshift	775	862	0.74
Stop gain/loss	549	588	0.36
Splice acceptor/donor	273	256	0.03
Synonymous	11227	12514	0.19
Total	31049	35079