Table 1 |
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Primary information of selected SNPs of the XPC gene |
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|
Gene [accession no.] and locus |
NCBI rs no. |
location |
AAa change |
Base change |
MAFb of cases |
MAFb of controls |
MAFb in EGPc |
MAFb in HapMapd |
% genotyped |
|
|
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|
XPC [NCBI: AY131066] 3p25.1 |
rs3731055 |
000603, close to 5'UTR |
G > A |
0.25 |
0.27 |
0.07 |
--- |
96.6 |
|
|
rs2607775 |
000947, close to 5'UTR |
C > G |
0.04 |
0.04 |
0.35 |
--- |
98.3 |
||
|
rs3729587 |
012413, intron 5 |
C > G |
0.11 |
0.11 |
0.35 |
--- |
92.5 |
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|
rs2228000 |
021151, exon 9 |
A499V |
C > T |
0.33 |
0.32 |
0.24 |
0.30 |
98.2 |
|
|
rs2228001 |
033512, exon 16 |
K939Q |
A > C |
0.38 |
0.36 |
0.34 |
0.38 |
98.2 |
|
|
|
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aAA: amino acid. bMAF: Minor allele frequencies. cEGP: US environmental Genome Project SNP database. dHapMap: For Chinese included in the International HapMap Project. |
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|
Bai et al. BMC Cancer 2007 7:81 doi:10.1186/1471-2407-7-81 |
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