Source: CURATED

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: rs11979158
rs11979158
EGFR
0.882 0.040 7 55091656 intron variant A/G;T snv 0.20
CUI: C0017638
Disease: Glioma
Glioma 		0.850 1.000 2 2011 2018
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 1 2004 2020
dbSNP: rs1057519848
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.800 0.983 1 2004 2020
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.800 0.983 1 2004 2020
dbSNP: rs606231253
rs606231253
EGFR
1.000 7 55157738 missense variant G/A snv 4.0E-06
CUI: C4015130
Disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 		0.800 0
dbSNP: rs28929495
rs28929495
EGFR
0.807 0.120 7 55174014 missense variant G/A;C;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.750 1.000 16 2004 2019
dbSNP: rs121913444
rs121913444
EGFR
0.724 0.160 7 55191831 missense variant T/A;C;G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.750 1.000 6 2004 2020
dbSNP: rs121913428
rs121913428
EGFR
0.827 0.120 7 55174015 missense variant G/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.740 1.000 17 1990 2019
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
0.763 0.160 7 55181312 missense variant G/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.740 1.000 8 2004 2018
dbSNP: rs397517108
rs397517108
EGFR ; EGFR-AS1
0.790 0.120 7 55181312 missense variant GC/TT mnv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.740 1.000 6 2004 2018
dbSNP: rs28929495
rs28929495
EGFR
0.807 0.120 7 55174014 missense variant G/A;C;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.720 1.000 1 2016 2018
dbSNP: rs121913444
rs121913444
EGFR
0.724 0.160 7 55191831 missense variant T/A;C;G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.710 1.000 1 2016 2020
dbSNP: rs149840192
rs149840192
EGFR
0.807 0.080 7 55154129 missense variant C/A;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.710 1.000 1 2016 2018
dbSNP: rs121913418
rs121913418
EGFR
0.882 0.160 7 55174818 missense variant G/A;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 5 2006 2014
dbSNP: rs121913433
rs121913433
EGFR
1.000 0.040 7 55174771 missense variant A/G snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 3 2010 2014
dbSNP: rs121913444
rs121913444
EGFR
0.724 0.160 7 55191831 missense variant T/A;C;G snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 3 2012 2016
dbSNP: rs397517112
rs397517112
EGFR ; EGFR-AS1
1.000 0.080 7 55181320 protein altering variant -/ACC delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 3 2005 2011
dbSNP: rs121913229
rs121913229
EGFR
0.925 0.080 7 55174785 missense variant G/C snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 2 2005 2014
dbSNP: rs121913229
rs121913229
EGFR
0.925 0.080 7 55174785 missense variant G/C snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2012 2014
dbSNP: rs121913231
rs121913231
EGFR
1.000 0.080 7 55174794 missense variant C/T snv 8.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2007 2014
dbSNP: rs121913420
rs121913420
EGFR
1.000 0.080 7 55174737 missense variant G/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2010 2014
dbSNP: rs121913428
rs121913428
EGFR
0.827 0.120 7 55174015 missense variant G/A;C snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 2 2012 2013
dbSNP: rs121913430
rs121913430
EGFR
1.000 0.080 7 55174740 missense variant G/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2013 2014
dbSNP: rs121913432
rs121913432
EGFR ; EGFR-AS1
1.000 0.080 7 55181327 missense variant A/G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2008 2014
dbSNP: rs121913446
rs121913446
EGFR
0.925 0.120 7 55174735 missense variant C/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2013 2014