Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.921 38 2003 2019
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.818 22 2001 2015
dbSNP: rs25489
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.900 10 2001 2019
dbSNP: rs1214285376
rs1214285376
XRCC1
0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2016 2016
dbSNP: rs148611340
rs148611340
XRCC1
0.790 0.120 19 43543621 missense variant G/A;C snv 4.0E-06; 1.2E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2014 2014
dbSNP: rs199613843
rs199613843
XRCC1
0.807 0.160 19 43551609 synonymous variant C/T snv 4.0E-06 7.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2014 2014
dbSNP: rs200842482
rs200842482
XRCC1
0.851 0.120 19 43551592 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2014 2014
dbSNP: rs2307181
rs2307181
XRCC1
0.851 0.120 19 43544170 synonymous variant G/A;C snv 6.1E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2015 2015
dbSNP: rs2307191
rs2307191
XRCC1
0.827 0.120 19 43553616 missense variant G/A snv 1.2E-03 4.8E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2015 2015
dbSNP: rs2854509
rs2854509
XRCC1
0.807 0.160 19 43570445 intron variant T/G snv 0.80
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 2015 2015
dbSNP: rs72554204
rs72554204
XRCC1
0.827 0.120 19 43546062 missense variant C/T snv 1.2E-04 1.3E-04
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2014 2014
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.070 1.000 7 2005 2019
dbSNP: rs2228000
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.040 0.500 4 2012 2014
dbSNP: rs183167499
rs183167499
XPC
0.882 0.080 3 14146131 missense variant G/A;C snv 8.2E-06; 1.0E-04
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2007 2007
dbSNP: rs1800975
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 1.000 3 2011 2018
dbSNP: rs376040996
rs376040996
XPA
0.790 0.120 9 97687210 missense variant T/C;G snv 1.2E-05; 2.0E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2004 2007
dbSNP: rs1408543226
rs1408543226
XPA
0.807 0.240 9 97675558 missense variant A/G snv 7.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2007 2007
dbSNP: rs12918952
rs12918952
WWOX
0.851 0.120 16 78386878 missense variant G/A;C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 2013 2013
dbSNP: rs3764340
rs3764340
WWOX
0.807 0.280 16 78432540 missense variant C/G snv 7.1E-02 7.4E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2013 2013
dbSNP: rs12740674
rs12740674
WLS ; GNG12-AS1
0.882 0.080 1 68121775 intron variant C/T snv 0.34
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2017 2017
dbSNP: rs7086803
rs7086803
VTI1A
0.763 0.160 10 112738717 intron variant G/A snv 0.20
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.720 1.000 2 2012 2018
dbSNP: rs10506868
rs10506868
VTI1A
0.716 0.160 10 112559621 intron variant C/T snv 3.1E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2018 2018
dbSNP: rs11196067
rs11196067
VTI1A
0.752 0.160 10 112709306 intron variant A/T snv 0.32
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2018 2018
dbSNP: rs12241008
rs12241008
VTI1A
0.716 0.160 10 112520943 intron variant T/C snv 0.13
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2018 2018
dbSNP: rs833061
rs833061
VEGFA
0.605 0.600 6 43769749 upstream gene variant C/G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 1.000 3 2014 2017