Table 4 of Whigham, Mol Vis 2011; 17:1064-1069.
Nucleotide sequence change |
SNP ID |
Reported pathogenicity |
Observed in POAG (n=113) |
Observed in controls (n=131) |
---|---|---|---|---|
c.-92_-91delCT | - | Novel | 1 (0.9%) | 2 (1.5%) |
c.604+13A>C | - | Novel | 7 (6.2%) | 6 (4.6%) |
c.604+50G>A | - | Novel | 7 (6.2%) | 9 (6.9%) |
c.731–73C>T | rs79255460 | Novel | 2 (1.8%) | 13 (9.9%) |
c.731–23G>A | - | Novel | 2 (1.8%) | 1 (0.8%) |
c.-83G>A | rs2075648 | Neutral [13] | 0 (0.0%) | 1 (0.8%) |
c.730+35A>G | rs2032555 | Neutral [19] | 10 (8.8%) | 21 (16.0%) |