Table 3.
Association between common variants in IFNGR1 and protection against ADEH+ among European Americans (P ≤ 0.05)
| Variants | Chr. 6 position (hg38) |
Function | Major allele |
Minor allele |
MAF (ADEH+) |
MAF (ADEH−) |
P value |
|---|---|---|---|---|---|---|---|
| rs11914 | 137198451 | coding- synonymous, +20,980 |
A | C | 0.116 | 0.238 | 0.002 |
| rs17175127 | 137212069 | intron, +7362 | G | A | 0.116 | 0.238 | 0.002 |
| rs1327475* | 137215318 | intron, +4113 | G | A | 0.116 | 0.234 | 0.002 |
| rs10457655* | 137218673 | intron, +758 | G | A | 0.124 | 0.252 | 0.002 |
| rs7749390* | 137219233 | splice site, +198 |
A | G | 0.380 | 0.481 | 0.011 |
| rs2234711* | 137219383 | promoter, −56 | A | G | 0.384 | 0.481 | 0.015 |
| rs28515059 | 137221209 | promoter, −1179 |
C | T | 0.120 | 0.229 | 0.006 |
*
Denote markers previously reported.
Polymorphic positions are indicated with position 1 refers to the A of the start codon (ATG). Positive number suggests position after start codon, and negative number suggests position before start codon.