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: rs1057519760
rs1057519760
EGFR
7 55160314 missense variant A/G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2012 2012
dbSNP: rs1057519828
rs1057519828
EGFR
7 55143387 missense variant G/A snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2006 2006
dbSNP: rs1057519829
rs1057519829
EGFR
7 55154050 missense variant A/C;G snv 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2006 2006
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: 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: 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: 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: 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: 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: rs121913465
rs121913465
EGFR ; EGFR-AS1
0.763 0.160 7 55181312 missense variant G/T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 2 2012 2013
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
0.763 0.160 7 55181312 missense variant G/T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 2 2006 2014
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: rs886037891
rs886037891
EGFR
0.790 0.160 7 55155917 missense variant G/T snv 4.0E-06
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs886037891
rs886037891
EGFR
0.790 0.160 7 55155917 missense variant G/T snv 4.0E-06
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		0.700 0
dbSNP: rs886037891
rs886037891
EGFR
0.790 0.160 7 55155917 missense variant G/T snv 4.0E-06
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		0.700 0
dbSNP: rs886037891
rs886037891
EGFR
0.790 0.160 7 55155917 missense variant G/T snv 4.0E-06
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		0.700 0
dbSNP: rs886037891
rs886037891
EGFR
0.790 0.160 7 55155917 missense variant G/T snv 4.0E-06
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		0.700 0
dbSNP: rs886037891
rs886037891
EGFR
0.790 0.160 7 55155917 missense variant G/T snv 4.0E-06
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs886037891
rs886037891
EGFR
0.790 0.160 7 55155917 missense variant G/T snv 4.0E-06
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 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: rs149840192
rs149840192
EGFR
0.807 0.080 7 55154129 missense variant C/A;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 2 2006 2016
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: rs149840192
rs149840192
EGFR
0.807 0.080 7 55154129 missense variant C/A;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
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