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: rs1045411
rs1045411
HMGB1
0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 1.000 2 2007 2015
dbSNP: rs1046175
rs1046175
PAOX
0.851 0.080 10 133391446 stop gained C/A;G;T snv 1.2E-05; 0.88
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2019 2019
dbSNP: rs1046282
rs1046282
ERCC1 ; PPP1R13L ; CD3EAP
0.776 0.160 19 45407414 3 prime UTR variant A/G snv 0.30
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2013 2013
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2017 2017
dbSNP: rs1047840
rs1047840
EXO1
0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.030 0.667 3 2008 2014
dbSNP: rs1047972
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 0.500 2 2007 2015
dbSNP: rs10487372
rs10487372
CFTR ; CFTR-AS1
0.882 0.080 7 117560845 intron variant C/T snv 0.13
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2010 2010
dbSNP: rs104886003
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 < 0.001 1 2012 2012
dbSNP: rs104886026
rs104886026
EGFR
0.851 0.080 7 55200333 missense variant G/A snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2010 2010
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.100 0.900 20 1998 2017
dbSNP: rs1049337
rs1049337
CAV1
0.882 0.080 7 116560533 3 prime UTR variant C/T snv 0.25
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2017 2017
dbSNP: rs1050450
rs1050450
GPX1
0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.030 1.000 3 2007 2008
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
0.658 0.400 8 127395198 intron variant A/G snv 0.40
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2016 2016
dbSNP: rs10506868
rs10506868
VTI1A
0.716 0.160 10 112559621 intron variant C/T snv 3.1E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2018 2018
dbSNP: rs10508266
rs10508266 		0.882 0.080 10 3797822 intergenic variant G/A;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2007 2007
dbSNP: rs10511729
rs10511729
LOC101929563
0.742 0.240 9 23557229 intron variant T/G snv 0.35
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2014 2014
dbSNP: rs10512948
rs10512948 		0.882 0.080 5 8233238 intron variant T/C snv 0.15
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2013 2013
dbSNP: rs10514231
rs10514231
ATG10
0.807 0.160 5 82011593 intron variant C/T snv 0.56
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2016 2016
dbSNP: rs1051730
rs1051730
CHRNA3
0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.100 0.947 19 2008 2018
dbSNP: rs1051740
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.080 1.000 8 2006 2015
dbSNP: rs1051753269
rs1051753269
EGFR
0.790 0.120 7 55174029 missense variant G/A snv 7.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2014 2014
dbSNP: rs10519203
rs10519203
HYKK
0.851 0.080 15 78521704 intron variant G/A snv 0.67
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2010 2010
dbSNP: rs10519717
rs10519717
LOC105377462
0.851 0.080 4 144559188 intron variant T/C snv 0.21
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2019 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.100 0.967 30 1999 2019