TABLE 2.
POR variants detected in this cohort
POR SNP ID, genomic position, coding position, amino acid change, and location were compiled from Hart et al., 2008; Huang et al., 2008; Gomes et al., 2009; and Tomková et al., 2012.
| SNP ID | Genomic Position | Coding Position | Location | Amino Acid Change | Genotype Frequency | Variant Allele Frequency (%) | ||
|---|---|---|---|---|---|---|---|---|
| Genotype | N | Frequency (%) | ||||||
| rs3823884 | 5036A>C | −47A>C | 5′-UTR | AA | 55 | 52.4 | 27.1 | |
| AC | 43 | 41 | ||||||
| CC | 7 | 6.6 | ||||||
| rs17148944 | 62448G>A | 237+88G>A | Intron 2 | GG | 108 | 98.2 | 0.91 | |
| GA | 2 | 1.8 | ||||||
| AA | 0 | 0 | ||||||
| rs10239977 | 69567C>T | 366+89C>T | Intron 3 | CC | 94 | 90.4 | 4.8 | |
| CT | 10 | 9.6 | ||||||
| TT | 0 | 0 | ||||||
| rs1135612 | 70258A>G | 387A>G | Exon 4 | Pro129a | AA | 32 | 28.6 | 46.9 |
| AG | 55 | 49.1 | ||||||
| GG | 25 | 22.3 | ||||||
| rs10954732 | 71730G>A | 931+225G>A | Intron 6 | GG | 27 | 24.1 | 48.2 | |
| GA | 62 | 55.4 | ||||||
| AA | 23 | 20.5 | ||||||
| rs3815455 | 72337C>T | 830+116C>T | Intron 7 | CC | 43 | 41.3 | 34.6 | |
| CT | 50 | 48.1 | ||||||
| TT | 11 | 10.6 | ||||||
| rs41301394 | 73384C>T | 831-35C>T | Intron 7 | CC | 46 | 41.8 | 35.5 | |
| CT | 50 | 45.5 | ||||||
| TT | 14 | 12.7 | ||||||
| rs4732515 | 74610T>C | 1067-66T>C | Intron 9 | TT | 2 | 1.8 | 85.1 | |
| TC | 29 | 26.1 | ||||||
| CC | 80 | 72.1 | ||||||
| rs4732516 | 74663C>G | 1067-13C>G | Intron 9 | CC | 2 | 1.8 | 84.5 | |
| CG | 30 | 27.3 | ||||||
| GG | 78 | 70.9 | ||||||
| rs2286822 | 74869C>T | 1248+12C>T | Intron 10 | CC | 26 | 25 | 51.4 | |
| CT | 49 | 47.1 | ||||||
| TT | 29 | 27.9 | ||||||
| rs2286823 | 74877G>A | 1248+20G | Intron 10 | GG | 23 | 22.3 | 51.5 | |
| GA | 54 | 52.4 | ||||||
| AA | 26 | 25.3 | ||||||
| rs41301427 | 75138G>A | 1398+32G>A | Intron 11 | GG | 100 | 97.1 | 1.46 | |
| GA | 3 | 2.9 | ||||||
| AA | 0 | 0 | ||||||
| rs2302432 | 75445G>T | 1399-33G>T | Intron 11 | GG | 0 | 0 | 87.6 | |
| GT | 25 | 24.8 | ||||||
| TT | 76 | 75.2 | ||||||
| rs2302431 | 75444T>C | 1399-34T>C | Intron 12 | TT | 88.2 | |||
| TC | 24 | 23.5 | ||||||
| CC | 78 | 76.5 | ||||||
| rs1057868 | 75587C>T | 1508C>T | Exon 12 | Ala503Val | CC | 46 | 41.8 | 35.5 |
| CT | 50 | 45.5 | ||||||
| TT | 14 | 12.7 | ||||||
| rs2228104 | 75534T>C | 1455T>C | Exon 12 | Ala485a | TT | 0 | 0 | 88.1 |
| TC | 24 | 23.8 | ||||||
| CC | 77 | 76.2 | ||||||
| rs2302433 | 75781C>T | 1669+33C>T | Intron 12 | CC | 98 | 89.1 | 5.9 | |
| CT | 11 | 10.0 | ||||||
| TT | 1 | 0.9 | ||||||
| rs1057870 | 75868G>A | 1716G>A | Exon 13 | Ser572a | GG | 94 | 91.3 | 4.4 |
| GA | 9 | 8.7 | ||||||
| AA | 0 | 0 | ||||||
5′-UTR, 5′-untranslated region.
a
SNPs that do not result in amino acid changes.