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: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.050 1.000 5 2006 2019
dbSNP: rs121913444
rs121913444
EGFR
0.724 0.160 7 55191831 missense variant T/A;C;G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.750 1.000 5 2004 2020
dbSNP: rs2072671
rs2072671
CDA
0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.050 0.800 5 2010 2019
dbSNP: rs2227983
rs2227983
EGFR
0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.050 1.000 5 2007 2011
dbSNP: rs28929495
rs28929495
EGFR
0.807 0.120 7 55174014 missense variant G/A;C;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.750 1.000 5 2004 2019
dbSNP: rs759412116
rs759412116
ERCC2
0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.050 1.000 5 2004 2013
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.040 1.000 4 2005 2014
dbSNP: rs1057519783
rs1057519783
ALK
0.851 0.080 2 29220747 missense variant C/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.040 1.000 4 2014 2019
dbSNP: rs121913428
rs121913428
EGFR
0.827 0.120 7 55174015 missense variant G/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.740 1.000 4 1990 2019
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
0.763 0.160 7 55181312 missense variant G/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.740 1.000 4 2004 2018
dbSNP: rs1799793
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.040 0.750 4 2003 2015
dbSNP: rs25489
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.040 0.750 4 2006 2016
dbSNP: rs397517108
rs397517108
EGFR ; EGFR-AS1
0.790 0.120 7 55181312 missense variant GC/TT mnv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.740 1.000 4 2004 2018
dbSNP: rs7041
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.040 1.000 4 2015 2019
dbSNP: rs1057519698
rs1057519698
ALK
0.827 0.120 2 29222347 missense variant A/G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2014 2016
dbSNP: rs1057519788
rs1057519788
ROS1
0.925 0.080 6 117317184 missense variant C/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2015 2019
dbSNP: rs1130409
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2011 2014
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2008 2014
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2011 2014
dbSNP: rs1805794
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2006 2012
dbSNP: rs2279744
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2011 2014
dbSNP: rs2868371
rs2868371
HSPB1
0.827 0.120 7 76301442 upstream gene variant C/G snv 0.22
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2011 2013
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2011 2014
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2011 2019
dbSNP: rs401681
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.730 0.750 3 2013 2019