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: rs104894360
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs121913281
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs121917901
rs121917901
ERCC6
0.790 0.440 10 49478437 stop gained G/A snv 7.2E-05 4.9E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs121917902
rs121917902
ERCC6 ; PGBD3
0.790 0.440 10 49524073 stop gained G/A snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs1324578301
rs1324578301
NTRK2
1.000 0.080 9 85020233 missense variant C/T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs17851045
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs180177042
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs1805076
rs1805076
PPP2R1B
0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs2071460
rs2071460
CSNK2A3 ; GALNT18
1.000 0.080 11 11352722 missense variant A/G snv 0.48 0.41
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs372594677
rs372594677
EPHA3
1.000 0.080 3 89472571 missense variant C/A;T snv 8.0E-06; 1.2E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs373227647
rs373227647
ERCC6
0.790 0.440 10 49472472 splice acceptor variant T/C snv 8.0E-06 7.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs376526037
rs376526037
ERCC6
0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs387906660
rs387906660
BRAF
0.790 0.280 7 140801550 missense variant G/A;C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs387906661
rs387906661
BRAF
0.807 0.280 7 140801551 missense variant T/G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs397507466
rs397507466
BRAF
0.807 0.280 7 140801537 missense variant T/A;C;G snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs397516895
rs397516895
BRAF
0.827 0.280 7 140753392 missense variant A/T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs540635787
rs540635787
CHEK2
0.851 0.200 22 28694073 missense variant G/A;C;T snv 1.7E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs587782705
rs587782705
TP53
0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs1019340046
rs1019340046
TP53
0.882 0.080 17 7674225 missense variant C/T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 1993 1993
dbSNP: rs104886003
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 2012 2012
dbSNP: rs10750417
rs10750417
LINC01395
0.882 0.080 11 129612280 non coding transcript exon variant A/G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 2018 2018
dbSNP: rs11543848
rs11543848
EGFR
0.790 0.240 7 55161562 missense variant G/A;C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 2018 2018
dbSNP: rs1171287261
rs1171287261
EGFR
0.851 0.080 7 55191839 missense variant G/A snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 2014 2014
dbSNP: rs118101777
rs118101777
IDH2
0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 2016 2016
dbSNP: rs12268840
rs12268840
MGMT
0.827 0.200 10 129527035 intron variant C/T snv 0.22
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 2008 2008