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: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs758748662
rs758748662
EGFR
1 1.000 0.160 7 55155911 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs771366736
rs771366736
EGFR
1 1.000 0.160 7 55143380 missense variant A/G snv 8.0E-06 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs771929085
rs771929085
EGFR
1 1.000 0.160 7 55155941 missense variant G/A snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs1060503460
rs1060503460
NBN
2 0.925 0.200 8 89955461 missense variant A/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.010 1.000 1 2006 2006
dbSNP: rs746965070
rs746965070
NBN
5 0.827 0.200 8 89955487 missense variant T/C snv 1.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs778998026
rs778998026
NBN
2 0.925 0.200 8 89981502 missense variant C/G;T snv 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs779346343
rs779346343
NBN
2 0.925 0.200 8 89970379 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1408543226
rs1408543226
XPA
6 0.807 0.240 9 97675558 missense variant A/G snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1805329
rs1805329
RAD23B
15 0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16 0.010 1.000 1 2007 2007
dbSNP: rs2237857
rs2237857
FANCG
2 0.925 0.200 9 35076758 missense variant G/A snv 1.5E-02 3.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2005 2005
dbSNP: rs2308321
rs2308321
MGMT
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2005 2005
dbSNP: rs2308327
rs2308327
MGMT
10 0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2011 2011
dbSNP: rs199475643
rs199475643
PAH
3 0.882 0.240 12 102894894 missense variant T/C snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs748625642
rs748625642
MMAB
2 0.925 0.200 12 109568774 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs143810759
rs143810759
LIG4
6 0.851 0.280 13 108210371 missense variant C/T snv 1.6E-04 2.1E-04 0.020 1.000 2 2010 2012
dbSNP: rs774188914
rs774188914
ERCC5 ; BIVM-ERCC5
4 0.851 0.200 13 102858296 missense variant C/G snv 2.4E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.070 0.857 7 2003 2014
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.020 0.500 2 2012 2014
dbSNP: rs148298598
rs148298598
APEX1
2 0.925 0.200 14 20457111 missense variant G/A snv 2.3E-04 2.1E-04 0.010 1.000 1 2006 2006
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
12 0.763 0.320 14 103712930 splice region variant T/C snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs2307486
rs2307486
APEX1 ; OSGEP
7 0.790 0.240 14 20456045 missense variant A/G snv 7.4E-03 2.1E-03 0.010 1.000 1 2006 2006