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. 2021 Sep 25;69(10):2710–2716. doi: 10.4103/ijo.IJO_1750_21

Table 2.

Variants segregating and nonsegregating with the disease in the monozygotic twins and the JOAG patient

Monozygotic twins JOAG patient
Segregating with disease
 Total variants n=548 n=695
 Glaucoma associated n=1 (NF1 gene)* n=1 (PAX6 gene)**
Nonsegregating with disease
 Total variants n=2174 n=1195
 Glaucoma associated n=0 n=1 (OPTN gene)***

*NF1 (neurofibromin 1) gene, rs191111884 an intronic variant (ClinVar: Benign). **PAX6 (paired box 6) gene, rs759391101 an inframe deletion (ClinVar: Benign). ***OPTN (optineurin) gene, rs71492279 an intronic variant (ClinVar: Benign)