Skip to main content
. 2013 May 10;13:234. doi: 10.1186/1471-2407-13-234

Table 2.

Primary information for 7 genotyped SNPs in DNA repair genes

Genotyped SNPs Location/or amino acid change MAF for Chinese in databasea Pvalue for HWE test
XRCC3: rs861539 C>T
nsSNP/ T241M
0.067
0.165
XRCC3: rs1799794 G>A
5' UTR
0.478
0.271
XRCC3: rs1799796 A>T
nsSNP/ A17893G
0.289
0.406
BRCA2: rs1799943 G>A
Promoter
0.279
0.722
BRCA2: rs15869 A>C
3' UTR
0.244
0.375
RAG1: rs2227973 G>A
nsSNP/ R820K
0.465
0.586
XRCC5: rs1051685 A>G
3' UTR
0.067
0.808
LIG4: rs1805388 C>T
nsSNP/T9I
0.261
0.659
XRCC4: rs1805377 A>G
Splice Site
0.300
0.454
ATM: rs189037 G>A Promoter 0.389 0.070

MAF, minor allele frequency; HWE, Hardy-Weinberg equilibrium.

aMinor allele frequency in the Chinese (CHB, Han Chinese in Beijing, China) population, as reported in dbSNP database.