Table 1 Known and candidate polymorphisms in the EGFR gene
Variant allele frequency† | |||||||
|---|---|---|---|---|---|---|---|
Region† | Nucleotide (amino acid) change† | SNP ID† | Korean (27 controls/27 cases) | Global | Caucasian | Asian | African American |
Promoter | -1433C>T | rs17335689 | 0.00/0.00 | 0.017 | 0.00 | 0.00 | 0.042 |
-1298G>A | rs17335696 | 0.00/0.00 | 0.006 | 0.00 | 0.00 | 0.042 | |
-1247G>A | rs6593197 | 0.00/0.00 | - | 0.00 | 0.00 | 0.104 | |
-1225G>A | - | 0.00/0.00 | - | 0.023 | 0.00 | 0.00 | |
-759C>A | rs759171 | 0.00/0.00 | 0.101 | 0.136 | 0.00 | 0.146 | |
-646G>A | - | 0.00/0.00 | - | 0.00 | 0.00 | 0.042 | |
-615C>G | rs13228815 | 0.00/0.00 | - | - | - | - | |
-540G>A | - | 0.02/0.00 | - | 0.00 | 0.024 | 0.00 | |
-482C>A | rs17335710 | 0.00/0.00 | 0.006 | 0.00 | 0.00 | 0.063 | |
-216G>T | rs712829 | 0.02/0.04 | 0.222 | 0.318 | 0.071 | 0.292 | |
-191C>A | rs712830 | 0.00/0.00 | 0.078 | 0.136 | 0.00 | 0.00 | |
Intron 1 | 169G>T | rs17335738 | 0.00/0.00 | 0.101 | 0.114 | 0.00 | 0.114 |
2028G>A | - | 0.07/0.07 | - | 0.023 | 0.095 | 0.042 | |
Exon 3 | 124080G>A (R98Q) | rs17289589 | 0.00/0.00 | 0.006 | - | - | - |
Exon 4 | 127378C>T (N158N) | rs2072454 | 0.37/0.32 | 0.415 | 0.500 (0.42)‡ | 0.320 | 0.457 |
127417C>T (D171D) | rs17289686 | 0.00/0.00 | 0.011 | - | - | - | |
127435G>A (S177S) | rs17336437 | 0.00/0.00 | 0.028 | - | - | - | |
Intron 4 | 127473G>A IVS4+10) | rs7801956 | 0.00/0.02 | 0.051 | 0.070 | 0.039 | 0.008 |
Exon 7 | 134783C>G (P266R) | rs17336639 | 0.00/0.00 | 0.006 | - | - | - |
Exon 8 | 136584C>T (C307C) | rs17289893 | 0.00/0.00 | 0.011 | - | - | - |
Exon 9 | 137368G>A (P373P) | rs2302536 | 0.00/0.00 | 0.006 | 0.00 | 0.007 | - |
Exon 12 | 140880G>A (A439A) | rs17290005 | 0.00/0.00 | 0.022 | - | - | - |
Exon 13 | 142232C>T (G503G) | rs17336800 | 0.39/0.41 | 0.006 | - | - | - |
142285G>A (R521K) | rs11543848 | 0.39/0.41 | 0.289 | 0.250 (0.26)‡ | 0.500 | 0.109 | |
Exon 14 | 144456T>C (G544G) | rs17290103 | 0.00/0.00 | 0.022 | - | - | - |
Exon 15 | 146055T>C (V592A) | rs28384375 | 0.00/0.00 | - | - | - | - |
146068G>A (P596P) | rs17290162 | 0.00/0.00 | 0.017 | - | - | - | |
146119C>T (A613A) | rs17290169 | 0.00/0.00 | 0.08 | - (0.05)‡ | - | - | |
146151G>T (C624F) | rs28384376 | 0.00/0.00 | - | - | - | - | |
Exon 16 | 151904T>A (T629T) | rs17337023 | 0.37/0.41 | 0.456 | - (0.36)‡ | - (0.446)§ | - |
Exon 17 | 153806G>A (V674I) | rs17337079 | 0.00/0.00 | 0.006 | - | - | - |
Exon 18 | 154737G>T (G719C) | rs28929495 | 0.00/0.00 | - | - | - | - |
Exon 20 | 162093G>A (Q787Q) | rs10251977 | 0.07/0.13 | 0.427 | 0.604 (0.48)‡ | 0.146 | 0.457 |
Exon 21 | 172480C>T (R836R) | rs17518376 | 0.00/0.00 | 0.011 | 0.083 (0.07)‡ | 0.00 | 0.00 |
Exon 23 | 179447T>C (T903T) | rs1140475 | 0.07/0.06 | 0.111 | 0.117 (0.13)‡ | 0.06 | 0.017 |
Exon 24 | 181074C>G (R962G) | rs17337451 | 0.00/0.00 | 0.06 | - | - | - |
Exon 25 | 181927A>C (H988P) | rs17290699 | 0.00/0.00 | 0.006 | - | - | - |
181946C>T (D994D) | rs2293347 | 0.43/0.35 | 0.197 | 0.136 | 0.286 | 0.053 | |
3'UTR | 187114T>C | rs884225 | 0.37/0.31 | 0.869 | 0.150 | 0.475 | 0.025 |