Table 2.
dbSNP ID 1 | Chromosomal Position 2 | Location (relative to EGFR 3) | Alleles 1 | Aminoacid Change |
Population Diversity | |||||
---|---|---|---|---|---|---|---|---|---|---|
Genotype Frequency in Study Population |
HapMap-CEU Gen Frequency |
|||||||||
Patient Number 4 |
Genotypes | Genotypes | ||||||||
rs3735064 | chr7:55,112,327 | intron 1 | C>T | N/A5 | 137 | C/C 0.628 |
C/T 0.270 |
T/T 0.102 |
C/C 0.596 |
C/T 0.246 |
rs7780270 | chr7:55,119,380 | intron 1 | G>T | N/A5 | 42 | G/G 0.452 |
G/T 0.405 |
T/T 0.143 |
G/G 0.340 |
G/T 0.468 |
rs11543848 | chr7:55,196,749 | exon 13 (nonsynonymous) | G>A | K521R | 162 | A/A 0.062 |
A/G 0.259 |
G/G 0.679 |
A/A 0.064 |
A/G 0.404 |
rs11976696 | chr7:55,199,827 | intron 14 | A>G | N/A5 | 198 | A/A 0.652 |
A/G 0.298 |
G/G 0.051 |
A/A 0.700 |
A/G 0.283 |
rs9642391 | chr7:55,212,858 | intron 19 | G>C | N/A5 | 194 | G/G 0.593 |
C/G 0.304 |
C/C 0.103 |
G/G 0.491 |
C/G 0.404 |
rs845560 | chr7:55,218,288 | intron 20 | C>T | N/A5 | 158 | C/C 0.557 |
C/T 0.317 |
T/T 0.127 |
C/C 0.567 |
C/T 0.350 |
rs845562 | chr7:55,222,299 | intron 20 | G>A | N/A5 | 183 | A/A 0.038 |
A/G 0.240 |
G/G 0.721 |
A/A 0.033 |
A/G 0.233 |
rs7808697 | chr7:55,231,056 | intron 22 | G>A | N/A5 | 184 | A/A 0.027 |
A/G 0.212 |
G/G 0.761 |
A/A 0.038 |
A/G 0.226 |
rs884419 | chr7:55,243,774 | flanking (1.249 Kbp downstream) | G>A | N/A5 | 196 | A/A 0.031 |
A/G 0.174 |
G/G 0.796 |
A/A 0.017 |
A/G 0.183 |
Abbreviations: EGFR, Epidermal growth factor receptor; dbSNP, database single nucleotide polymorphism; chr, chromosome; HapMap, International HapMap project; CEU, population consisting of Utah residents with ancestry from Northern and Western Europe
Data obtained from NCBI Database of Single Nucleotide Polymorphisms (dbSNP) Build ID:128, http://www.ncbi.nlm.nih.gov/SNP/, accessed April 2008
Based on alignment with the NCBI Build 36.1 human reference sequence using the BLAT software, http://genome.ucsc.edu/, accessed April 2008
Relative to annotated genomic sequence for human EGFR isoform a, chr7:55,054,219–55,242,525
Indicates number of patients (from n=212) for which the genotyping reaction yielded informative results