Table 4 of Chen, Mol Vis 2010; 16:2016-2025.
Minor allele frequency (%) | Genotype counts | ||||||||
---|---|---|---|---|---|---|---|---|---|
Location | Sequence change | Residue change | SNP ID | Case (n=92) | Control (n=190) | p | Case (n=46) | Control (n=95) | p |
Exon 1 | c.-186G>A* | – | rs4958281 | 5 (5.4) | 6 (3.2) | 0.35 | 0/5/41 | 0/6/89 | 0.34 |
Intron 2 | IVS2+56G>C | – | rs7714314 | 3 (3.3) | 7 (3.7) | 1.0 | 0/3/43 | 1/5/89 | 0.75 |
Exon 3 | c.66A>G | Glu22Glu | rs2304052 | 2 (2.2) | 5 (2.6) | 1.0 | 0/2/44 | 0/5/90 | 1.0 |
Intron 3 | IVS3+8G>T | – | novel | 0 (0) | 2 (1.1) | - | 0/0/46 | 0/2/93 | - |
Intron 3 | IVS3+32C>T | – | novel | 1 (1.1) | 0 (0) | - | 0/1/45 | 0/0/95 | - |
Intron 3 | IVS3+36T>G | – | rs2116780 | 36 (39.1) | 77 (40.5) | 0.82 | 7/22/17 | 15/47/33 | 0.97 |
Intron 3 | IVS3+42T>C | – | rs2304051 | 4 (4.3) | 6 (3.2) | 0.73 | 0/4/42 | 0/6/89 | 0.73 |
Intron 4 | IVS4+31C>T | – | rs1978707 | 45 (48.9) | 92 (48.4) | 0.94 | 10/25/11 | 24/44/27 | 0.67 |
Intron 5 | IVS5–59T>G | – | rs7719521 | 44 (47.8) | 89 (46.8) | 0.88 | 10/24/12 | 22/45/28 | 0.86 |
Intron 7 | IVS7+100G>A | – | rs729853 | 38 (41.3) | 80 (42.1) | 0.90 | 7/24/15 | 16/48/31 | 0.97 |
3′-UTR | c.912+29C>G | – | rs1053411 | 39 (42.4) | 80 (42.1) | 0.96 | 8/23/15 | 16/48/31 | 0.99 |