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: 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: 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: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 1.000 1 2012 2012
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0007130
Disease: Mucinous Adenocarcinoma
Mucinous Adenocarcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2012 2012
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2012 2012
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: 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: 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2013 2015
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C3900097
Disease: Adult Penile Carcinoma
Adult Penile Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0853105
Disease: Penis carcinoma
Penis carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0153601
Disease: Malignant neoplasm of penis
Malignant neoplasm of penis 		0.010 1.000 1 2013 2013
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0278803
Disease: Adenocarcinoma of small intestine
Adenocarcinoma of small intestine 		0.010 1.000 1 2013 2013
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: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.020 1.000 2 2014 2016
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.020 1.000 2 2014 2015
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		0.010 1.000 1 2014 2014
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
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: C0028259
Disease: Nodule
Nodule 		0.020 0.500 2 2015 2018
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0278517
Disease: Non-small cell lung cancer recurrent
Non-small cell lung cancer recurrent 		0.020 1.000 2 2015 2017
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 1.000 1 2015 2015