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: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C4324656
Disease: Non-squamous non-small cell lung cancer
Non-squamous non-small cell lung cancer 		0.020 1.000 2 2016 2018
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0278517
Disease: Non-small cell lung cancer recurrent
Non-small cell lung cancer recurrent 		0.020 1.000 2 2015 2017
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular 		0.020 1.000 2 2007 2018
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.020 1.000 2 2014 2016
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.020 1.000 2 2014 2015
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 1.000 2 2015 2018
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2013 2015
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.010 1.000 1 2019 2019
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.010 1.000 1 2017 2017
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2012 2012
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C4524268
Disease: Advanced lung cancer
Advanced lung cancer 		0.010 1.000 1 2009 2009
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0686377
Disease: CNS metastases
CNS metastases 		0.010 1.000 1 2019 2019
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C1402294
Disease: Primary Lesion
Primary Lesion 		0.010 1.000 1 2018 2018
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2018 2018
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0278803
Disease: Adenocarcinoma of small intestine
Adenocarcinoma of small intestine 		0.010 1.000 1 2013 2013
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0206704
Disease: Carcinoma, Large Cell
Carcinoma, Large Cell 		0.010 1.000 1 2016 2016
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0862793
Disease: Adenocarcinoma of lung stage IIIB
Adenocarcinoma of lung stage IIIB 		0.010 1.000 1 2018 2018
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0024232
Disease: Lymphatic Metastasis
Lymphatic Metastasis 		0.010 1.000 1 2015 2015
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 1.000 1 2015 2015
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C1336117
Disease: Stage IA Lung Adenocarcinoma AJCC v7
Stage IA Lung Adenocarcinoma AJCC v7 		0.010 1.000 1 2017 2017
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0015230
Disease: Exanthema
Exanthema 		0.010 1.000 1 2018 2018
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C3900097
Disease: Adult Penile Carcinoma
Adult Penile Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0334277
Disease: Adenocarcinoma, metastatic
Adenocarcinoma, metastatic 		0.010 1.000 1 2005 2005
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		0.010 1.000 1 2014 2014