Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.030 1.000 3 2014 2015
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.030 1.000 3 2014 2016
dbSNP: rs61754966
rs61754966
NBN
23 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.030 1.000 3 2007 2013
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 1.000 3 2014 2016
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.020 1.000 2 2014 2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 1.000 2 2014 2016
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 1.000 2 2014 2014
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2009 2009
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2009 2009
dbSNP: rs115160714
rs115160714
TOPBP1
9 0.807 0.200 3 133601021 3 prime UTR variant G/A snv 5.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2011 2011
dbSNP: rs13078
rs13078
DICER1
5 0.827 0.280 14 95090410 3 prime UTR variant A/T snv 0.85 0.010 1.000 1 2015 2015
dbSNP: rs148704956
rs148704956
IL17A
19 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1799778
rs1799778
XRCC1
1 1.000 0.120 19 43554989 intron variant G/T snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2016 2016
dbSNP: rs1816158
rs1816158
MIR100HG
3 0.925 0.200 11 122155752 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1864183
rs1864183
ATG10
12 0.742 0.240 5 82253397 missense variant C/T snv 0.52 0.40 0.010 1.000 1 2017 2017
dbSNP: rs2230600
rs2230600
PTPN13
5 0.827 0.160 4 86769845 missense variant A/G snv 0.18 0.14 0.010 1.000 1 2009 2009
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs28366003
rs28366003
MT2A
10 0.763 0.240 16 56608579 upstream gene variant A/C;G snv 4.6E-02 0.010 1.000 1 2014 2014