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

Table 5

Variants identified from a set of 169 previously identified DR-associated genes [18–20, 24] and occurring more than once in either case or controls.

Gene	DNA variant	Protein variant prediction	Frequency in gnomAD (aggregated)	Case ()	Control ()	^†	rs number
KMT2C	c.2537C>T	p.Ala846Val	0.142%	4	0	0.11	rs574432367
AHNAK2	c.7050C>T	p.Ala2350=	0.5037%	4	0	0.11	rs148170366
DNAH10	c.8281-10_8281-9delTT	—	0.4561%	4	0	0.11	rs34756279
VPS13B	c.5501C>T	p.Ser1834Leu	0.7958%	6	1	0.10	rs144257406
KIR2DS4	c.700C>T	p.Pro234Ser	N/A	1	13	0.0004	—
CFAP74	c.573G>A	p.Val191=	0.9187%	0	4	0.11	rs77196972
HLA-DRB1	c.33C>T	p.Cys11=	0.0125%	0	4	0.11	rs34396110
PAPSS2^‡	c.381+2_381+3insAAAA	—	N/A	0	4	0.11	rs367885911

^†2-sided Fisher’s exact. ^‡Identified in the study by Song et al. [20].