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: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.060 1.000 6 2004 2012
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2011 2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 1.000 3 2004 2012
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2010 2012
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.020 1.000 2 2004 2012
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.020 1.000 2 2004 2012
dbSNP: rs1024708183
rs1024708183
MAP2K7
4 0.925 0.040 19 7909761 missense variant A/G snv 0.010 1.000 1 2018 2018
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 2012 2012
dbSNP: rs1057520007
rs1057520007
TP53
21 0.701 0.440 17 7674917 missense variant T/A;C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121965059
rs121965059
OAT
4 0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1372047743
rs1372047743
MCM4 ; PRKDC
3 8 47960120 missense variant C/T snv 9.7E-06 0.010 1.000 1 2015 2015
dbSNP: rs1383997
rs1383997
MSC-AS1
1 8 72005483 intron variant T/C snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs1395746092
rs1395746092
XRCC1 ; PINLYP
1 19 43575449 missense variant T/C snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1431381385
rs1431381385
XPC
1 3 14167204 missense variant G/A snv 4.1E-06 1.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs1470755915
rs1470755915
RUNX1T1
10 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs150547487
rs150547487
SLX4
1 16 3597425 missense variant T/C snv 9.9E-04 4.1E-03 0.010 1.000 1 2015 2015
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2004 2004
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.010 1.000 1 2008 2008
dbSNP: rs2232365
rs2232365
FOXP3
16 0.716 0.480 X 49259429 intron variant T/C snv 0.010 1.000 1 2018 2018
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 2015 2015
dbSNP: rs281864719
rs281864719
ALK
14 0.763 0.240 2 29220831 missense variant A/C;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2824215
rs2824215 		1 21 17063088 intergenic variant A/C snv 0.34 0.010 1.000 1 2019 2019