EGFR, epidermal growth factor receptor, 1956

N. diseases: 1394; N. variants: 183
Disease: Non-Small Cell Lung Carcinoma ×
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: rs1057519847
rs1057519847 		0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.800 0.983 176 2004 2020
dbSNP: rs1057519848
rs1057519848 		0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.800 0.983 176 2004 2020
dbSNP: rs121434568
rs121434568 		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 		Neoplasms; Respiratory Tract Diseases 0.800 0.983 176 2004 2020
dbSNP: rs28929495
rs28929495 		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 		Neoplasms; Respiratory Tract Diseases 0.750 1.000 21 2004 2019
dbSNP: rs121913444
rs121913444 		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 		Neoplasms; Respiratory Tract Diseases 0.750 1.000 11 2004 2020
dbSNP: rs121913428
rs121913428 		0.827 0.120 7 55174015 missense variant G/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.740 1.000 21 1990 2019
dbSNP: rs121913465
rs121913465 		0.763 0.160 7 55181312 missense variant G/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.740 1.000 11 2004 2018
dbSNP: rs397517108
rs397517108 		0.790 0.120 7 55181312 missense variant GC/TT mnv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.740 1.000 10 2004 2018
dbSNP: rs121913418
rs121913418 		0.882 0.160 7 55174818 missense variant G/A;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 5 2006 2014
dbSNP: rs397517112
rs397517112 		1.000 0.080 7 55181320 protein altering variant -/ACC delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 3 2005 2011
dbSNP: rs121913229
rs121913229 		0.925 0.080 7 55174785 missense variant G/C snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 2 2012 2014
dbSNP: rs121913231
rs121913231 		1.000 0.080 7 55174794 missense variant C/T snv 8.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 2 2007 2014
dbSNP: rs121913420
rs121913420 		1.000 0.080 7 55174737 missense variant G/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 2 2010 2014
dbSNP: rs121913430
rs121913430 		1.000 0.080 7 55174740 missense variant G/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 2 2013 2014
dbSNP: rs121913432
rs121913432 		1.000 0.080 7 55181327 missense variant A/G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 2 2008 2014
dbSNP: rs121913446
rs121913446 		0.925 0.120 7 55174735 missense variant C/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 2 2013 2014
dbSNP: rs121913466
rs121913466 		1.000 0.080 7 55174762 missense variant T/C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 2 2009 2014
dbSNP: rs397517116
rs397517116 		1.000 0.080 7 55181325 inframe insertion -/CACGTG delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 2 2005 2006
dbSNP: rs397517127
rs397517127 		1.000 0.080 7 55191749 missense variant G/C;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 2 2006 2007
dbSNP: rs121913427
rs121913427 		1.000 0.080 7 55174773 missense variant G/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2014 2014
dbSNP: rs121913464
rs121913464 		1.000 0.080 7 55174792 missense variant C/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2014 2014
dbSNP: rs121913467
rs121913467 		1.000 0.080 7 55174730 stop gained G/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1554350366
rs1554350366 		1.000 0.080 7 55181324 protein altering variant -/GCCACG delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2005 2005
dbSNP: rs397517086
rs397517086 		1.000 0.080 7 55173986 inframe deletion AAC/- del
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2008 2008
dbSNP: rs397517106
rs397517106 		1.000 0.080 7 55181287 coding sequence variant -/TCCAGGAAGCCT delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2008 2008