|  |  |  | Effect and significancec | Frequency of rare allele |
---|
Site | Significance in NC | Locationa | Typeb | CA | KI | NC | CA | K |
---|
C6085G | 7.98 × 107 | E1 | R | (OK) ns | (Rev) ns | 15/125 | 13/75 | 4/27 |
T30200C | 6.11 × 1010 | P2 | N | (Rev) ns | (OK) *** | 26/121 | 21/76 | 8/17 |
A31442T | 5.49 × 108 | I2 | N | (OK) ns | (OK) ns | 13/92 | 3/24 | 2/20 |
A36644T | 9.60 × 107 | I2 | N | (Rev) ns | (OK) * | 26/116 | 3/20 | 9/24 |
A36761C | 5.17 × 106 | I2 | N | na | na | 35/84 | na | na |
Del37192d | 3.44 × 105 | I2 | N | (OK) ns | (OK) ns | 8/106 | 10/77 | 7/24 |
A37282G | 9.95 × 106 | I2 | N | nd | nd | 13/106 | 1/77 | 0/23 |
T39160C | 2.10 × 105 | E4 | S | (OK) ns | (OK) # | 41/128 | 26/76 | 16/35 |
In39534d | 8.81 × 105 | I5 | N | (OK) ns | (OK) ns | 27/110 | 6/27 | 3/33 |
C40620Te | 7.37 × 107 | E6 | S | (OK) ns | (OK) # | 46/123 | 19/79 | 7/36 |
G42242A | 8.88 × 105 | 3' UTR | N | nd | nd | 5/105 | 1/12 | 1/25 |
- a. Location within the Egfr locus, where P2 refers to the second promoter and the other indicators to the respective introns (I), exons (E) and the 3'UTR.
- b. Type indicates the nature of the polymorphism; R: replacement, N: non-coding and S: synonymous.
- c. Effects of the polymorphisms in the same direction as in NC are indicated by "OK" and those in the reverse direction are designated by "Rev", with the significance of the genotypic term indicated. "ns": not significant, "#:" 0.1 > p > 0.05. "*": p > 0.01, "**": p > 0.001, "***": p > 0.0001. P-values are not adjusted to correct for the number of tests conducted. "na": genotypes not available, "nd": not computed because of allele rarity.
- d. Del37192 is a one base pair deletion and In39534 a four base insert (AACC repeated).
- e. Site C40620T is the same as site 8697 described by Dworkin et al. [21].