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: rs1360631927
rs1360631927
ERCC2
4 0.851 0.200 19 45369114 missense variant C/T snv 7.0E-06 0.710 1.000 8 1994 2015
dbSNP: rs121913025
rs121913025
ERCC2
2 0.925 0.240 19 45357295 missense variant A/G snv 0.700 1.000 7 1994 2004
dbSNP: rs587778271
rs587778271
ERCC2
2 0.925 0.160 19 45353296 frameshift variant AA/- delins 2.0E-04 0.700 1.000 3 2001 2016
dbSNP: rs1060503460
rs1060503460
NBN
2 0.925 0.200 8 89955461 missense variant A/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs1181005582
rs1181005582
MPG ; NPRL3
2 0.925 0.200 16 85767 missense variant C/T snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1298314972
rs1298314972
FASTK
2 1.000 0.160 7 151079887 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
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: 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: rs770085172
rs770085172
AGT
1 1.000 0.160 1 230710315 missense variant T/C snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs776223836
rs776223836
ERCC2
11 0.763 0.280 19 45364045 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs77907221
rs77907221
XPC
3 0.882 0.160 3 14154795 intron variant AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs80357610
rs80357610
BRCA1
7 0.851 0.160 17 43094550 frameshift variant GT/- delins 0.010 1.000 1 2013 2013
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2013 2013
dbSNP: rs941759532
rs941759532
ERCC4
11 0.763 0.240 16 13932175 missense variant C/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1568546120
rs1568546120
ERCC2
2 1.000 0.160 19 45368993 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1568546252
rs1568546252
ERCC2
2 1.000 0.160 19 45369132 stop gained C/A snv 0.700 0
dbSNP: rs762309206
rs762309206
ERCC2
2 0.925 0.160 19 45364833 splice donor variant CACT/- delins 1.1E-04 0.700 0
dbSNP: rs1405999227
rs1405999227
EGFR
3 0.925 0.160 7 55156637 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
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: rs1225118391
rs1225118391
AGT
2 0.925 0.200 1 230710637 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs772572683
rs772572683
ERCC2
1 1.000 0.160 19 45355676 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs121913019
rs121913019
ERCC2
3 0.925 0.240 19 45354774 missense variant T/C;G snv 4.0E-06 0.710 1.000 8 1994 2016
dbSNP: rs756340448
rs756340448
ERCC2
8 0.790 0.240 19 45369135 synonymous variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
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