Source: ALL

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: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.100 0.875 16 2000 2018
dbSNP: rs3025058
rs3025058
MMP3
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 1.000 2 2006 2014
dbSNP: rs28360317
rs28360317
XRCC4
0.716 0.280 5 83323739 intron variant -/CCT delins 0.24
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 < 0.001 1 2009 2009
dbSNP: rs11453459
rs11453459
PPP2R1A
0.882 0.080 19 52189696 upstream gene variant -/G delins
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2013 2013
dbSNP: rs1205454520
rs1205454520
PTEN ; KLLN
0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2016 2016
dbSNP: rs1799732
rs1799732
DRD2 ; LOC105369501
0.790 0.160 11 113475529 intron variant -/G delins
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2016 2016
dbSNP: rs10680577
rs10680577
EGLN2 ; RAB4B-EGLN2
0.776 0.160 19 40798690 intron variant -/TACT delins
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2019 2019
dbSNP: rs735482
rs735482
ERCC1 ; CD3EAP
0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.040 1.000 4 2011 2016
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 1.000 2 2007 2016
dbSNP: rs1043973338
rs1043973338
IL1B
0.882 0.080 2 112830483 missense variant A/C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2007 2007
dbSNP: rs1057519697
rs1057519697
ALK
0.776 0.120 2 29220830 missense variant A/C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2016 2016
dbSNP: rs1057519729
rs1057519729
MAP2K1
0.827 0.080 15 66435113 missense variant A/C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2016 2016
dbSNP: rs1105879
rs1105879
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2012 2012
dbSNP: rs11137037
rs11137037
ANGPT2 ; MCPH1
0.851 0.200 8 6538661 intron variant A/C snv 0.40
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2019 2019
dbSNP: rs1204382931
rs1204382931
CYP1B1 ; CYP1B1-AS1
0.790 0.160 2 38075270 missense variant A/C snv 4.3E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2012 2012
dbSNP: rs12951053
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2007 2007
dbSNP: rs17486278
rs17486278
CHRNA5
0.827 0.120 15 78575140 intron variant A/C snv 0.32
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2010 2010
dbSNP: rs188912830
rs188912830
TMEM187 ; MIR3202-2 ; MIR3202-1
0.882 0.080 X 153981098 non coding transcript exon variant A/C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2016 2016
dbSNP: rs2844337
rs2844337
PAK1
0.851 0.120 11 77322663 3 prime UTR variant A/C snv 0.28
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2015 2015
dbSNP: rs425366
rs425366
CHL1
0.851 0.080 3 283727 intron variant A/C snv 0.56
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2018 2018
dbSNP: rs4713354
rs4713354
MDC1
0.882 0.080 6 30717643 upstream gene variant A/C snv 0.22
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2014 2014
dbSNP: rs7109645
rs7109645
PAK1
0.882 0.080 11 77475278 non coding transcript exon variant A/C snv 0.29
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2015 2015
dbSNP: rs712
rs712
KRAS
0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2015 2015
dbSNP: rs7248167
rs7248167 		0.882 0.080 19 43455962 downstream gene variant A/C snv 0.22
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 < 0.001 1 2015 2015
dbSNP: rs9554314
rs9554314
FLT1
0.851 0.080 13 28301652 3 prime UTR variant A/C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 < 0.001 1 2014 2014