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Table 1 Known and candidate polymorphisms in the EGFR gene

From: Polymorphisms in the epidermal growth factor receptor gene and the risk of primary lung cancer: a case-control study

    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
  1. Information about SNPs, SNP ID and frequencies of variant alleles in other ethnic populations were obtained from NCBI database http://www.ncbi.nlm.nih.gov. In the reference sequence (GenBank accession no. NT_033968), the translation start site was counted as +1. In the cases of polymorphisms in the promoter and intron 1 (i.e., from -1433C>T to 2028G>A), frequencies of variant alleles in Caucasians, Asians and African Americans were obtained from Ref. 15.
  2. Data in the parenthesis were obtained from Ref. 14.
  3. § Datum in the parenthesis was obtained from Ref. 24.