Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913433
rs121913433
EGFR
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 		0.700 1.000 3 2010 2014
dbSNP: rs397517112
rs397517112
EGFR ; EGFR-AS1
1.000 0.080 7 55181320 protein altering variant -/ACC delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 3 2005 2011
dbSNP: rs121913231
rs121913231
EGFR
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 		0.700 1.000 2 2007 2014
dbSNP: rs121913420
rs121913420
EGFR
1.000 0.080 7 55174737 missense variant G/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2010 2014
dbSNP: rs121913430
rs121913430
EGFR
1.000 0.080 7 55174740 missense variant G/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2013 2014
dbSNP: rs121913432
rs121913432
EGFR ; EGFR-AS1
1.000 0.080 7 55181327 missense variant A/G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2008 2014
dbSNP: rs121913466
rs121913466
EGFR
1.000 0.080 7 55174762 missense variant T/C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2009 2014
dbSNP: rs397517116
rs397517116
EGFR ; EGFR-AS1
1.000 0.080 7 55181325 inframe insertion -/CACGTG delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2005 2006
dbSNP: rs397517127
rs397517127
EGFR
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 		0.700 1.000 2 2006 2007
dbSNP: rs10488140
rs10488140
EGFR
1.000 0.040 7 55070695 intron variant C/T snv 0.26
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.700 1.000 1 2008 2008
dbSNP: rs1057519830
rs1057519830
EGFR
1.000 0.040 7 55163737 missense variant C/T snv
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		0.700 1.000 1 2013 2013
dbSNP: rs1057520037
rs1057520037
EGFR
1.000 0.080 7 55174782 missense variant G/C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 1.000 1 2005 2005
dbSNP: rs121913230
rs121913230
EGFR ; EGFR-AS1
1.000 0.040 7 55181437 missense variant G/A snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.700 1.000 1 2014 2014
dbSNP: rs121913231
rs121913231
EGFR
1.000 0.080 7 55174794 missense variant C/T snv 8.0E-06
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs121913427
rs121913427
EGFR
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 		0.700 1.000 1 2014 2014
dbSNP: rs121913430
rs121913430
EGFR
1.000 0.080 7 55174740 missense variant G/A snv
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913431
rs121913431
EGFR ; EGFR-AS1
1.000 0.040 7 55181438 missense variant G/A snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.700 1.000 1 2014 2014
dbSNP: rs121913464
rs121913464
EGFR
1.000 0.080 7 55174792 missense variant C/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 1 2014 2014
dbSNP: rs121913467
rs121913467
EGFR
1.000 0.080 7 55174730 stop gained G/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 1 2014 2014
dbSNP: rs1554350366
rs1554350366
EGFR ; EGFR-AS1
1.000 0.080 7 55181324 protein altering variant -/GCCACG delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 1 2005 2005
dbSNP: rs17172438
rs17172438
EGFR
1.000 0.040 7 55083844 intron variant T/C snv 0.21
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.700 1.000 1 2008 2008
dbSNP: rs17172445
rs17172445
EGFR
1.000 0.040 7 55121522 intron variant G/T snv 2.2E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0.700 1.000 1 2018 2018
dbSNP: rs397517086
rs397517086
EGFR
1.000 0.080 7 55173986 inframe deletion AAC/- del
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 1 2008 2008
dbSNP: rs397517106
rs397517106
EGFR ; EGFR-AS1
1.000 0.080 7 55181287 coding sequence variant -/TCCAGGAAGCCT delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 1 2008 2008
dbSNP: rs397517114
rs397517114
EGFR ; EGFR-AS1
1.000 0.080 7 55181323 protein altering variant -/CCCACG delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 1 2005 2005