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: 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 0.983 175 2004 2020
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 0.933 60 2009 2019
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: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 0.975 40 2005 2019
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.100 0.941 34 2005 2020
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.100 0.968 31 2006 2019
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.968 31 2006 2019
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0278987
Disease: Metastatic non-small cell lung cancer
Metastatic non-small cell lung cancer 		0.100 1.000 12 2013 2019
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.060 1.000 6 2012 2019
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		0.050 1.000 5 2010 2018
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C1851585
Disease: MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA 		0.040 1.000 4 2012 2017
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.040 1.000 4 2011 2019
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 1.000 4 2009 2017
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0854988
Disease: Adenocarcinoma of lung, stage IV
Adenocarcinoma of lung, stage IV 		0.040 1.000 4 2013 2019
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.040 1.000 4 2011 2019
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.040 1.000 4 2012 2018
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.040 1.000 4 2013 2016
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C1704231
Disease: Metastatic Malignant Neoplasm to the Leptomeninges
Metastatic Malignant Neoplasm to the Leptomeninges 		0.030 1.000 3 2009 2019
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C4744444
Disease: Metastatic Lung Adenocarcinoma
Metastatic Lung Adenocarcinoma 		0.030 1.000 3 2014 2018
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 0.667 3 2012 2016
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.030 1.000 3 2007 2013
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0080032
Disease: Pleural Effusion, Malignant
Pleural Effusion, Malignant 		0.030 1.000 3 2011 2015
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 1.000 3 2012 2017
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 1.000 2 2015 2018
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0153690
Disease: Secondary malignant neoplasm of bone
Secondary malignant neoplasm of bone 		0.020 1.000 2 2015 2017