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: 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: 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: rs7170924
rs7170924
IL16
0.851 0.080 15 81290798 intron variant G/T snv 0.30
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2016 2017
dbSNP: rs717620
rs717620
ABCC2
0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2012 2017
dbSNP: rs767935771
rs767935771
AXL
0.827 0.080 19 41259690 missense variant T/C snv 1.6E-05 5.6E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2016 2019
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2012 2015
dbSNP: rs984755949
rs984755949
COL11A2
1.000 0.080 6 33172302 missense variant A/C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2011 2018
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2013 2014
dbSNP: rs1057519729
rs1057519729
MAP2K1
0.827 0.080 15 66435113 missense variant A/C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.720 1.000 2 1995 2016
dbSNP: rs1057519784
rs1057519784
ALK
0.827 0.080 2 29220765 missense variant G/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2014 2017
dbSNP: rs10680577
rs10680577
EGLN2 ; RAB4B-EGLN2
0.776 0.160 19 40798690 intron variant -/TACT delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2014 2019
dbSNP: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2008 2016
dbSNP: rs11568820
rs11568820
VDR
0.672 0.480 12 47908762 intron variant C/T snv 0.38
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2008 2018