Research Article
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 | |
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