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: rs13347
rs13347
CD44
0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 < 0.001 1 2015 2015
dbSNP: rs1805087
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 < 0.001 1 2011 2011
dbSNP: rs2835267
rs2835267
SETD4 ; LOC100133286
0.827 0.080 21 36074727 intron variant T/C snv 0.63
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 < 0.001 1 2017 2017
dbSNP: rs2839698
rs2839698
MRPL23 ; H19 ; MIR675
0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 < 0.001 1 2020 2020
dbSNP: rs3756712
rs3756712
PDCD6 ; AHRR
0.790 0.160 5 308981 non coding transcript exon variant A/C;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 < 0.001 1 2012 2012
dbSNP: rs4636297
rs4636297
EGFL7 ; MIR126
0.724 0.360 9 136670698 intron variant A/G snv 0.67 0.65
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 < 0.001 1 2012 2012
dbSNP: rs471692
rs471692
TOP2A
0.925 0.080 17 40400518 intron variant T/A;C snv 0.79
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 < 0.001 1 2017 2017
dbSNP: rs4929984
rs4929984
MRPL23 ; H19
0.925 0.160 11 2003453 upstream gene variant C/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 < 0.001 1 2020 2020
dbSNP: rs9390123
rs9390123
PHACTR2
1.000 0.080 6 143622177 intron variant T/C snv 0.60
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 < 0.001 1 2014 2014
dbSNP: rs2279574
rs2279574
DUSP6
0.827 0.120 12 89351700 missense variant C/A;T snv 0.52
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 0.500 2 2017 2018
dbSNP: rs402710
rs402710
CLPTM1L
0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 0.500 2 2009 2013
dbSNP: rs751661633
rs751661633
APOBEC3B ; APOBEC3A
0.851 0.120 22 38984136 missense variant C/A snv 4.1E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 0.500 2 2010 2015
dbSNP: rs8040868
rs8040868
CHRNA3
0.742 0.240 15 78618839 synonymous variant T/C snv 0.35 0.37
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 0.500 2 2014 2018
dbSNP: rs756340448
rs756340448
ERCC2
0.790 0.240 19 45369135 synonymous variant G/A snv 4.0E-06 7.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 0.667 3 2011 2012
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: 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
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: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.070 0.857 7 2011 2015
dbSNP: rs11615
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.090 0.889 9 2011 2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.100 0.909 11 2011 2017
dbSNP: rs1057519861
rs1057519861
EGFR ; EGFR-AS1
0.776 0.080 7 55181398 missense variant T/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.100 0.938 16 2015 2020
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.100 0.960 25 2004 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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.100 0.980 406 2005 2020
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.800 0.983 175 2004 2020