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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2013 2013
dbSNP: rs754284524
rs754284524
LOX ; SRFBP1
1.000 0.040 5 122074125 stop gained -/TACATGCTAGATTCATTTTAACTCAATACTGCCATTCAATTCTAGCAAC ins 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2017 2017
dbSNP: rs1554350382
rs1554350382
EGFR ; EGFR-AS1
1.000 0.040 7 55181318 protein altering variant -/GTC ins
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 0
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.100 1.000 58 2005 2020
dbSNP: rs1057519848
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.100 1.000 58 2005 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.100 1.000 13 2008 2019
dbSNP: rs397517108
rs397517108
EGFR ; EGFR-AS1
0.790 0.120 7 55181312 missense variant GC/TT mnv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.050 1.000 5 2006 2018
dbSNP: rs397517096
rs397517096
EGFR
0.851 0.120 7 55174776 missense variant TT/CC mnv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.020 1.000 2 2015 2019
dbSNP: rs1057519720
rs1057519720
BRAF
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2013 2013
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2013 2013
dbSNP: rs121913469
rs121913469
ERBB2
0.763 0.240 17 39723966 missense variant TT/CC mnv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 0
dbSNP: rs11375254
rs11375254
TP63
0.882 0.080 3 189625454 intergenic variant A/-;AA;AAA;AAAA delins
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2019 2019
dbSNP: rs1322648460
rs1322648460
CD44 ; LOC100507144
0.776 0.320 11 35139332 frameshift variant G/- delins
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2016 2016
dbSNP: rs35201538
rs35201538 		1.000 0.040 9 33422490 intergenic variant -/T;TT delins
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2019 2019
dbSNP: rs397516975
rs397516975
ERBB2 ; MIR4728
0.925 0.080 17 39724728 inframe insertion -/ATACGTGATGGC delins
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 0
dbSNP: rs587776805
rs587776805
ERBB2 ; MIR4728
1.000 0.040 17 39724745 inframe insertion -/TGTGGGCTC delins
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 0
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.100 1.000 58 2005 2020
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.100 1.000 45 2006 2020
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.800 1.000 14 2008 2019
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.100 1.000 13 2008 2019
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.880 1.000 11 2009 2016
dbSNP: rs372043866
rs372043866
ERBB2
0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.070 1.000 7 2008 2018
dbSNP: rs397517132
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.060 1.000 6 2008 2016
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.050 1.000 5 2002 2012
dbSNP: rs10937405
rs10937405
TP63
0.807 0.080 3 189665394 intron variant C/T snv 0.38
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.840 1.000 5 2010 2014