Gene: EGFR ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.800 0.983 176 2004 2020
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.800 0.983 176 2004 2020
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.800 0.983 176 2004 2020
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 0.980 406 2005 2020
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.100 1.000 13 2011 2019
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.050 1.000 5 2007 2011
dbSNP: rs121913444
rs121913444
EGFR
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.750 1.000 11 2004 2020
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
11 0.763 0.160 7 55181312 missense variant G/T snv 0.740 1.000 11 2004 2018
dbSNP: rs1057519861
rs1057519861
EGFR ; EGFR-AS1
15 0.776 0.080 7 55181398 missense variant T/A snv 0.100 0.938 16 2015 2020
dbSNP: rs712829
rs712829
EGFR ; LOC105375284
8 0.776 0.120 7 55019062 5 prime UTR variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs397517108
rs397517108
EGFR ; EGFR-AS1
9 0.790 0.120 7 55181312 missense variant GC/TT mnv 0.740 1.000 10 2004 2018
dbSNP: rs1051753269
rs1051753269
EGFR
7 0.790 0.120 7 55174029 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs909797662
rs909797662
EGFR
8 0.790 0.120 7 55191837 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs28929495
rs28929495
EGFR
9 0.807 0.120 7 55174014 missense variant G/A;C;T snv 0.750 1.000 21 2004 2019
dbSNP: rs149840192
rs149840192
EGFR
7 0.807 0.080 7 55154129 missense variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913428
rs121913428
EGFR
6 0.827 0.120 7 55174015 missense variant G/A;C snv 0.740 1.000 21 1990 2019
dbSNP: rs884225
rs884225
EGFR
5 0.827 0.160 7 55206391 3 prime UTR variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1050171
rs1050171
EGFR ; EGFR-AS1
6 0.851 0.120 7 55181370 missense variant G/A;C snv 0.52; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1171287261
rs1171287261
EGFR
4 0.851 0.080 7 55191839 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs2293347
rs2293347
EGFR
4 0.851 0.080 7 55201223 synonymous variant C/T snv 0.14 9.5E-02 0.010 1.000 1 2008 2008
dbSNP: rs397517096
rs397517096
EGFR
4 0.851 0.120 7 55174776 missense variant TT/CC mnv 0.010 1.000 1 2018 2018
dbSNP: rs121913418
rs121913418
EGFR
3 0.882 0.160 7 55174818 missense variant G/A;T snv 0.700 1.000 5 2006 2014
dbSNP: rs121913229
rs121913229
EGFR
2 0.925 0.080 7 55174785 missense variant G/C snv 4.0E-06 0.700 1.000 2 2012 2014
dbSNP: rs121913446
rs121913446
EGFR
2 0.925 0.120 7 55174735 missense variant C/T snv 0.700 1.000 2 2013 2014
dbSNP: rs1032737355
rs1032737355
EGFR
2 0.925 0.080 7 55170434 missense variant T/A snv 0.010 1.000 1 2018 2018