Table 4 of Whigham, Mol Vis 2011; 17:1064-1069.


Table 4. List of non-coding variants identified from MYOC exon sequencing in black South African individuals with or without POAG.

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%)