EGFR, epidermal growth factor receptor, 1956

N. diseases: 1394; N. variants: 183
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1420841957
rs1420841957
0.882 0.080 7 55201275 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs148934350
rs148934350
0.882 0.080 7 55191792 missense variant C/A;T snv 8.0E-06; 3.6E-04
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs377444977
rs377444977
0.882 0.080 7 55143443 missense variant G/A snv 5.2E-05 2.1E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs6965469
rs6965469
0.882 0.080 7 55017274 upstream gene variant C/A;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs727504256
rs727504256
0.882 0.080 7 55173984 missense variant G/A snv 8.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs757699239
rs757699239
0.882 0.080 7 55201269 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs770443325
rs770443325
0.882 0.080 7 55172994 missense variant C/G;T snv 2.8E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1057520037
rs1057520037
1.000 0.080 7 55174782 missense variant G/C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2005 2005