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: rs121434569
rs121434569 		0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 0.974 115 2005 2019
dbSNP: rs1057519847
rs1057519847 		0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 0.975 40 2005 2019
dbSNP: rs1057519848
rs1057519848 		0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 0.975 40 2005 2019
dbSNP: rs121434568
rs121434568 		0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 0.975 40 2005 2019
dbSNP: rs397517132
rs397517132 		0.623 0.280 7 55191846 missense variant A/T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.060 1.000 6 2006 2018
dbSNP: rs146795390
rs146795390 		0.827 0.080 7 55191776 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2008 2014
dbSNP: rs1057519861
rs1057519861 		0.776 0.080 7 55181398 missense variant T/A snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2017 2019
dbSNP: rs763317
rs763317 		0.882 0.080 7 55027504 intron variant A/G snv 0.59
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2009 2015
dbSNP: rs104886026
rs104886026 		0.851 0.080 7 55200333 missense variant G/A snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1051753269
rs1051753269 		0.790 0.120 7 55174029 missense variant G/A snv 7.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11543848
rs11543848 		0.790 0.240 7 55161562 missense variant G/A;C;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs1171287261
rs1171287261 		0.851 0.080 7 55191839 missense variant G/A snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs121913444
rs121913444 		0.724 0.160 7 55191831 missense variant T/A;C;G snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121913465
rs121913465 		0.763 0.160 7 55181312 missense variant G/T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1276184054
rs1276184054 		0.851 0.080 7 55201305 missense variant G/A snv 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: rs1389500636
rs1389500636 		0.827 0.080 7 55156796 missense variant G/A snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1408630981
rs1408630981 		0.827 0.120 7 55205492 missense variant C/G snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1420841957
rs1420841957 		0.882 0.080 7 55201275 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm 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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
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: rs377444977
rs377444977 		0.882 0.080 7 55143443 missense variant G/A snv 5.2E-05 2.1E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs397517108
rs397517108 		0.790 0.120 7 55181312 missense variant GC/TT mnv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
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