Table 1.
Genetic Variants Discovered in HIF-1α Gene by Direct Sequencing (n = 24)
| Region | rs Number | SNP name | Position | Variation | Allele frequency | HWE |
|---|---|---|---|---|---|---|
| Promoter | ss526883730 | –1779A/–* | chr14:62160744 | A/–(del) | A:– = 0.833:0.167 | 1 |
| Promoter | ss526883723 | –578C/T | chr14:62161945 | C/T | C:T = 0.979:0.021 | 1 |
| Exon9 | ss526883733 | D349N* | chr14:62203623 | G/A | G:A = 0.979:0.021 | 1 |
| Intron9 | ss526883728 | IVS9+84G/A | chr14:62203911 | G/A | G:A = 0.979:0.021 | 1 |
| Exon12 | rs11549465 | P582S* | chr14:62207557 | C/T | C:T = 0.896:0.104 | 0.4113 |
| Exon12 | rs11549467 | T588A* | chr14:62207575 | A/G | G:A = 0.917:0.083 | 1 |
| Intron12 | rs4902080 | IVS12+99C/T* | chr14:62208005 | C/T | C:T = 0.875:0.125 | 0.5961 |
| Intron14 | rs10147275 | IVS14–99G/T | chr14:62213553 | G/T | G:T = 0.771:0.229 | 0.6587 |
| 3’UTR | rs2057482 | 2526C/T* | chr14:62213848 | C/T | C:T = 0.771:0.229 | 0.6587 |
*
Selected tag SNPs.