EGFR, epidermal growth factor receptor, 1956

N. diseases: 1394; N. variants: 183
Disease: Squamous cell carcinoma of the head and neck ×
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: rs121913433
rs121913433 		1.000 0.040 7 55174771 missense variant A/G snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.700 1.000 3 2010 2014
dbSNP: rs1057519887
rs1057519887 		0.925 0.040 7 55154128 missense variant GC/AA;AT mnv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs149840192
rs149840192 		0.807 0.080 7 55154129 missense variant C/A;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs769696078
rs769696078 		0.925 0.040 7 55154128 missense variant G/A snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs2227983
rs2227983 		0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.020 1.000 2 2012 2016
dbSNP: rs1057519830
rs1057519830 		1.000 0.040 7 55163737 missense variant C/T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1057519847
rs1057519847 		0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1057519848
rs1057519848 		0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs121434568
rs121434568 		0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs121434569
rs121434569 		0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1256743514
rs1256743514 		1.000 0.040 7 55191728 missense variant T/C snv 7.0E-06
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1276184054
rs1276184054 		0.851 0.080 7 55201305 missense variant G/A snv 4.0E-06
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1389500636
rs1389500636 		0.827 0.080 7 55156796 missense variant G/A snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2072454
rs2072454 		0.763 0.160 7 55146655 synonymous variant C/T snv 0.51 0.51
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs6970262
rs6970262 		1.000 0.040 7 55192070 intron variant A/G snv 0.66
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs754426793
rs754426793 		0.925 0.080 7 55181395 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs776375114
rs776375114 		0.851 0.080 7 55202577 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs845561
rs845561 		1.000 0.040 7 55185015 intron variant C/T snv 0.76
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2015 2015