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

Figure 1

Variant frequencies showing statistically significant differences among groups. (a) Missense variants with population frequency less than 1%. (b) Missense variants with a population frequency less than 1%, which were found in at least two subjects, either in cases or controls, and which had in silico aggregate prediction of pathogenicity. (c) Splice acceptor/donor variants with a population frequency less than 1% and observed in at least two subjects, either in cases or controls.

(a)

(b)

(c)