EGFR, epidermal growth factor receptor, 1956

N. diseases: 1394; N. variants: 183
Disease: Malignant neoplasm of lung ×
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: rs776375114
rs776375114 		0.851 0.080 7 55202577 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs149006234
rs149006234 		0.851 0.080 7 55146649 synonymous variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2072454
rs2072454 		0.763 0.160 7 55146655 synonymous variant C/T snv 0.51 0.51
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2293347
rs2293347 		0.851 0.080 7 55201223 synonymous variant C/T snv 0.14 9.5E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs712829
rs712829 		0.776 0.120 7 55019062 5 prime UTR variant G/C;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs884225
rs884225 		0.827 0.160 7 55206391 3 prime UTR variant T/C;G snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6965469
rs6965469 		0.882 0.080 7 55017274 upstream gene variant C/A;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015