Table 2 of Jia, Mol Vis 2009; 15:89-98.
Gene |
Sequence change |
Codon change |
Allele frequency (%) | Genotype frequency | ||
---|---|---|---|---|---|---|
POAG (n=352) | Control (n=400) | POAG (n=176) | Control (n=200) | |||
OPTN | c.603 T>A | M98K | 39 (11.08) | 48 (12) | 3/33/140 | 3/42/155 |
OPTN | c.1944 G>A | R545Q | 12 (3) | 13 (3.25) | 0/12/164 | 1/11/188 |
OPTN | IVS5+38 T>G | - | 118 (33.5) | 121 (30.25) | 17/84/75 | 14/93/93 |
OPTN | IVS8 −53 T>C | - | 27 (7.67) | 24 (6) | 1/25/150 | 1/22/177 |
OPTN | IVS15+10G>A | - | 8 (2.27) | 7 (1.75) | 0/8/168 | 0/7/193 |
WDR36 | IVS 5+30 C>T | - | 134 (38.1) | 170 (42.5) | 22/90/64 | 33/104/63 |