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: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		0.020 1.000 2 2013 2017
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 0.500 2 2013 2016
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0220654
Disease: Meningeal Carcinomatosis
Meningeal Carcinomatosis 		0.020 1.000 2 2013 2017
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2013 2015
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2013 2015
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0278987
Disease: Metastatic non-small cell lung cancer
Metastatic non-small cell lung cancer 		0.070 1.000 7 2014 2018
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0686377
Disease: CNS metastases
CNS metastases 		0.060 1.000 6 2014 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: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.030 1.000 3 2014 2018
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2014 2014
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0040100
Disease: Thymoma
Thymoma 		0.010 1.000 1 2014 2014
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0729233
Disease: Dissecting aneurysm of the thoracic aorta
Dissecting aneurysm of the thoracic aorta 		0.010 1.000 1 2015 2015
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.040 1.000 4 2016 2019
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.050 1.000 5 2017 2019
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.020 1.000 2 2017 2019
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0280217
Disease: stage, non-small cell lung cancer
stage, non-small cell lung cancer 		0.010 1.000 1 2017 2017
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2017 2017
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C1960925
Disease: Epidermal growth factor receptor positive non-small cell lung cancer
Epidermal growth factor receptor positive non-small cell lung cancer 		0.010 1.000 1 2017 2017
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell 		0.010 1.000 1 2017 2017
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C1265996
Disease: Large cell neuroendocrine carcinoma
Large cell neuroendocrine carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0334247
Disease: Squamous cell carcinoma, keratinizing
Squamous cell carcinoma, keratinizing 		0.010 1.000 1 2017 2017
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2017 2017
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 1.000 1 2017 2017
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C1851585
Disease: MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA 		0.010 1.000 1 2017 2017
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C1321546
Disease: Anaplastic large B-cell lymphoma
Anaplastic large B-cell lymphoma 		0.010 1.000 1 2017 2017