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%) |
*Nucleotides numbered as in Ensembl accession number ENSG00000034971 (transcript ENST00000037502) referenced to the February 2009 human reference sequence (GRCh37).