Source: BEFREE

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: rs774905136
rs774905136
EGFR
7 55156555 synonymous variant T/C snv 5.6E-05 1.4E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2014 2016
dbSNP: rs1219568637
rs1219568637
EGFR
7 55143404 missense variant G/A snv 7.0E-06
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs1219568637
rs1219568637
EGFR
7 55143404 missense variant G/A snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs1330512770
rs1330512770
EGFR
7 55161592 missense variant G/A snv 1.2E-05
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 1.000 1 2010 2010
dbSNP: rs1330512770
rs1330512770
EGFR
7 55161592 missense variant G/A snv 1.2E-05
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 1.000 1 2010 2010
dbSNP: rs140516819
rs140516819
EGFR
7 55172999 missense variant A/C;G snv 4.0E-05 2.4E-04
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs140516819
rs140516819
EGFR
7 55172999 missense variant A/C;G snv 4.0E-05 2.4E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs140516819
rs140516819
EGFR
7 55172999 missense variant A/C;G snv 4.0E-05 2.4E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs140516819
rs140516819
EGFR
7 55172999 missense variant A/C;G snv 4.0E-05 2.4E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2017 2017
dbSNP: rs149248025
rs149248025
EGFR
1.000 7 55201237 missense variant G/A;T snv 8.0E-05; 8.0E-06
CUI: C0854988
Disease: Adenocarcinoma of lung, stage IV
Adenocarcinoma of lung, stage IV 		0.010 1.000 1 2019 2019
dbSNP: rs150423237
rs150423237
EGFR
7 55173087 missense variant G/A snv 2.1E-04 2.4E-04
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs201498575
rs201498575
EGFR
7 55165359 missense variant G/A snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs35918369
rs35918369
EGFR
7 55205613 missense variant C/T snv 3.1E-04 3.3E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2017 2017
dbSNP: rs35918369
rs35918369
EGFR
7 55205613 missense variant C/T snv 3.1E-04 3.3E-04
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs35918369
rs35918369
EGFR
7 55205613 missense variant C/T snv 3.1E-04 3.3E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs35918369
rs35918369
EGFR
7 55205613 missense variant C/T snv 3.1E-04 3.3E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs377567759
rs377567759
EGFR
7 55160191 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs483352807
rs483352807
EGFR ; EGFR-AS1
7 55181402 missense variant T/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs556324078
rs556324078
EGFR
7 55205514 missense variant T/C snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs556324078
rs556324078
EGFR
7 55205514 missense variant T/C snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs556324078
rs556324078
EGFR
7 55205514 missense variant T/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs587777940
rs587777940
EGFR
7 55202667 missense variant T/G snv 7.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 1.000 1 2019 2019
dbSNP: rs723526
rs723526
EGFR
1.000 7 55067126 intron variant A/G snv 0.86
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2013 2013
dbSNP: rs723526
rs723526
EGFR
1.000 7 55067126 intron variant A/G snv 0.86
CUI: C0677944
Disease: Sentinel node (disorder)
Sentinel node (disorder) 		0.010 1.000 1 2013 2013
dbSNP: rs746763556
rs746763556
EGFR
7 55160230 missense variant T/A;G snv 1.6E-05; 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2016 2016