Table 1.
Variants identified in COCH.
| SNP ID | Location | Minor allele frequency (db SNP*) | Minor allele frequency in patients |
|---|---|---|---|
| rs111033189 del T | Intron 3 | NA | 0.05 |
| rs80152933 T/C | Intron 3 | NA | 0.05 |
| rs28362773 T/G | Intron 9 | 0.138 | 0.025 |
| rs12881068 A/T | Intron 9 | 0.145 | 0.045 |
| rs28362776 C/T | Intron 10 | 0.022 | 0.04 |
| rs1045644 C/G | Exon 11 (Thr352Ser) | 0.467 | 0.15 |
| rs13122 A/T | 3′ UTR | 0.175 | 0.01 |
| rs8014942 C/T | 5′ upstream region | 0.4886 | 0.16 |
| rs8015095 T/G | 5′ upstream region | 0.197 | 0.05 |
| rs28400019 G/A | 5′ upstream region | 0.0847 | 0.03 |
| rs28400021 C/T | 5′ upstream region | 0.2381 | 0.24 |
| −450 C/T (novel change) | 5′ upstream region | NA | 0.015 (0.01 in control) |
| rs11555426 G/A | 5′ upstream region | 0.10032 | 0.05 |
| −79 G/C (novel change) | 5′ upstream region | NA | 0.005 (not detected in control) |