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Table 1 Primary information of selected SNPs of the XPC gene

From: Sequence variations in DNA repair gene XPCis associated with lung cancer risk in a Chinese population: a case-control study

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

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

 

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

  1. aAA: amino acid.
  2. bMAF: Minor allele frequencies.
  3. cEGP: US environmental Genome Project SNP database.
  4. dHapMap: For Chinese included in the International HapMap Project.
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BMC Cancer

ISSN: 1471-2407

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