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: rs9642391
rs9642391 		1.000 0.080 7 55177671 intron variant G/C snv 0.24
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
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
dbSNP: rs374873413
rs374873413 		1.000 0.080 7 55181302 missense variant G/A;C snv 4.0E-05; 8.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2018 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: rs778199483
rs778199483 		1.000 0.080 7 55181313 missense variant C/G;T snv 4.8E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs397517111
rs397517111 		1.000 0.080 7 55181319 inframe insertion -/GGGTTG ins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 0
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: rs397517114
rs397517114 		1.000 0.080 7 55181323 protein altering variant -/CCCACG 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: 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: 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: 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: rs1050171
rs1050171 		0.851 0.120 7 55181370 missense variant G/A;C snv 0.52; 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121434569
rs121434569 		0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.100 0.980 406 2005 2020
dbSNP: rs754426793
rs754426793 		0.925 0.080 7 55181395 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1057519861
rs1057519861 		0.776 0.080 7 55181398 missense variant T/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.100 0.938 16 2015 2020
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: rs397517128
rs397517128 		1.000 0.080 7 55191753 missense variant A/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
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: 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: rs909797662
rs909797662 		0.790 0.120 7 55191837 missense variant G/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1171287261
rs1171287261 		0.851 0.080 7 55191839 missense variant G/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs397517132
rs397517132 		0.623 0.280 7 55191846 missense variant A/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.100 1.000 13 2011 2019