Source: CLINVAR

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: rs28929495
rs28929495
EGFR
0.807 0.120 7 55174014 missense variant G/A;C;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.720 1.000 1 2016 2018
dbSNP: rs121913444
rs121913444
EGFR
0.724 0.160 7 55191831 missense variant T/A;C;G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.710 1.000 1 2016 2020
dbSNP: rs121913229
rs121913229
EGFR
0.925 0.080 7 55174785 missense variant G/C snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 2 2005 2014
dbSNP: rs121913428
rs121913428
EGFR
0.827 0.120 7 55174015 missense variant G/A;C snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs139429793
rs139429793
EGFR
0.925 0.120 7 55155928 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2011 2011
dbSNP: rs150036236
rs150036236
EGFR
0.925 0.080 7 55191741 missense variant G/A snv 4.8E-05 3.5E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2010 2010
dbSNP: rs1554350382
rs1554350382
EGFR ; EGFR-AS1
1.000 0.040 7 55181318 protein altering variant -/GTC ins
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 0