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

Table 4

List of 19 rare missense variants (<1% in gnomAD) which had prediction of pathogenicity in 5 predictors (SIFT, Polyphen, Mut Assesor, MutationTaster, and FATHMM) and were observed more than once, either in cases or controls.

	Variants	Cases ()	Controls ()	Pearson’s chi-squared test	Fisher’s exact test
1	ABCA5c.2612T>C	2	1	0.55	1.00
2	ABCA8c.3856C>T	0	2	0.15	0.49
3	ABCB5c.3100C>T	2	0	0.15	0.49
4	ABCB6c.739C>T	6	3	0.27	0.47
5	ACADVLc.68G>A	1	3	0.30	0.61
6	ALOX15Bc.932C>T	2	2	1.00	1.00
7	CACNA1Sc.1670G>A	3	1	0.30	0.61
8	CATSPER4c.247A>G	0	2	0.15	0.49
9	CHRNDc.117C>G	1	4	0.16	0.35
10	CNN2c.797G>A	2	2	1.00	1.00
11	COL27A1c.793G>A	0	2	0.15	0.49
12	DNASE1c.460C>G	7	2	0.70	0.14
13	DTHD1c.2621G>A	3	0	0.07	0.23
14	DUOX1c.2176G>A	2	0	0.15	0.49
15	EHD2c.838C>T	2	2	1.00	1.00
16	KCNJ14c.324C>G	2	1	0.55	1.00
17	NCF1c.269G>A	2	1	0.55	1.00
18	POTEJc.2077G>C	2	0	0.15	0.49
19	UNC93Ac.883G>A	2	2	1.00	1.00
		41	30	0.097