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: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2005 2005
dbSNP: rs1136410
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2015 2019
dbSNP: rs1799971
rs1799971
OPRM1
0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2019 2019
dbSNP: rs2070600
rs2070600
AGER
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.040 1.000 4 2013 2018
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2012 2012
dbSNP: rs104886003
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 2012 2012
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2016 2016
dbSNP: rs1128503
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2019 2019
dbSNP: rs4073
rs4073
CXCL8
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2015 2015
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.968 31 2006 2019
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.968 31 2006 2019
dbSNP: rs1057519848
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.968 31 2006 2019
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: rs2243250
rs2243250
IL4
0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 0.500 2 2015 2019
dbSNP: rs699947
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2014 2014
dbSNP: rs11615
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.040 1.000 4 2012 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.710 1.000 1 2015 2016
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2015 2015
dbSNP: rs1800566
rs1800566
NQO1
0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.040 0.750 4 2004 2017
dbSNP: rs7975232
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 1.000 3 2009 2017
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2012 2015
dbSNP: rs7041
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2015 2015
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.040 1.000 4 2008 2017
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.981 103 2005 2019