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: 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: rs1801280
rs1801280
NAT2
14 0.716 0.440 8 18400344 missense variant T/C snv 0.38 0.39 0.010 1.000 1 2005 2005
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2005 2005
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2005 2005
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2005 2005
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.090 1.000 9 2006 2016
dbSNP: rs28931615
rs28931615
FGFR3
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.020 1.000 2 2006 2015
dbSNP: rs351855
rs351855
FGFR4
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.010 1.000 1 2006 2006
dbSNP: rs587783064
rs587783064
TP53
5 0.851 0.120 17 7669626 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.080 1.000 8 2007 2014
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.080 1.000 8 2007 2014
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.080 0.875 8 2007 2017
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.070 0.857 7 2007 2014
dbSNP: rs833052
rs833052 		5 0.827 0.160 6 43755598 intergenic variant A/C snv 0.88 0.040 1.000 4 2007 2019
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 0.030 0.667 3 2007 2013
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.020 1.000 2 2007 2019
dbSNP: rs1805377
rs1805377
XRCC4
19 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 0.020 1.000 2 2007 2013
dbSNP: rs2228526
rs2228526
ERCC6
13 0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19 0.020 0.500 2 2007 2017
dbSNP: rs10234749
rs10234749 		3 0.882 0.120 7 152690784 regulatory region variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1109324
rs1109324 		5 0.827 0.160 6 43762018 intergenic variant G/T snv 0.15 0.010 1.000 1 2007 2007
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2007 2007
dbSNP: rs125701
rs125701
OGG1
7 0.790 0.160 3 9748794 upstream gene variant G/A snv 0.13 0.010 1.000 1 2007 2007
dbSNP: rs1547651
rs1547651 		4 0.851 0.200 6 43762907 regulatory region variant A/T snv 0.15 0.010 1.000 1 2007 2007
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: rs2230641
rs2230641
CCNH
8 0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17 0.010 1.000 1 2007 2007