Gene/SNP
|
Function
|
chr
|
n
|
Genotypic frequencies
|
Allelic frequencies
|
MAF#
|
Functional consequence#
|
---|
XRCC1
|
BER
|
19q13
| | | | | | | | | | | | | |
rs25487*
| | |
436
|
CC
|
0.42
|
CT
|
0.48
|
TT
|
0.10
|
C
|
0.66
|
T
|
0.34
|
0.26
|
Missense
|
rs25489
| | |
483
|
CC
|
0.88
|
CT
|
0.12
|
TT
|
0.00
|
C
|
0.94
|
T
|
0.06
|
0.06
|
Missense
|
rs1799782*
| | |
487
|
AA
|
0.00
|
AG
|
0.12
|
GG
|
0.88
|
A
|
0.06
|
G
|
0.94
|
0.13
|
Missense
|
ERCC2
|
NER
|
19q13
| | | | | | | | | | | | | |
rs13181
| | |
482
|
GG
|
0.10
|
GT
|
0.47
|
TT
|
0.43
|
G
|
0.34
|
T
|
0.66
|
0.24
|
Missense
|
ERCC1
|
NER
|
19q13
| | | | | | | | | | | | | |
rs11615
| | |
488
|
AA
|
0.39
|
AG
|
0.46
|
GG
|
0.16
|
A
|
0.61
|
G
|
0.39
|
0.36
|
Synonymous codon
|
LIG4
|
DSBR
|
13q23
| | | | | | | | | | | | | |
rs1805388†
| | |
488
|
AA
|
0.04
|
AG
|
0.25
|
GG
|
0.71
|
A
|
0.17
|
G
|
0.83
|
0.15
|
Missense
|
rs1805386†
| | |
480
|
AA
|
0.70
|
AG
|
0.26
|
GG
|
0.04
|
A
|
0.83
|
G
|
0.17
|
0.10
|
Synonymous codon
|
ATM
|
DSBR
|
11q22
| | | | | | | | | | | | | |
rs17503908
| | |
486
|
GG
|
0.00
|
GT
|
0.18
|
TT
|
0.81
|
G
|
0.09
|
T
|
0.91
|
0.06
|
Intron variant
|
rs1800057
| | |
486
|
CC
|
0.94
|
CG
|
0.06
|
GG
|
0.00
|
C
|
0.97
|
G
|
0.03
|
0.02
|
Missense
|
TP53
|
DSBR
|
17p13
| | | | | | | | | | | | | |
rs1042522
| | |
484
|
CC
|
0.59
|
CG
|
0.35
|
GG
|
0.06
|
C
|
0.76
|
G
|
0.24
|
0.39
|
Missense
|
-
Abbreviations: BER base excision repair, NER nucleotide excision repair, DSBR double-strand break repair, chr chromosome, MAF minor allele frequency.
- #Information available at: http://www.ncbi.nlm.nih.gov/projects/SNP/.
- *SNPs in perfect linkage disequilibrium.
-
†SNPs in perfect linkage disequilibrium.