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: 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: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.800 0.983 176 2004 2020
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 29 2011 2019
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: 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: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.800 1.000 19 2002 2019
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: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.100 1.000 13 2011 2019
dbSNP: rs121913273
rs121913273
PIK3CA
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 12 2004 2014
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: 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: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 9 1984 2014
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
2 0.925 0.160 11 533881 missense variant C/T snv 0.700 1.000 9 1982 2011
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2006 2018
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 1.000 7 1998 2010
dbSNP: rs397516896
rs397516896
BRAF
11 0.763 0.360 7 140753355 missense variant C/G;T snv 0.700 1.000 7 2002 2010
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 1.000 7 2006 2018
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.060 1.000 6 2009 2016
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: rs397516981
rs397516981
ERBB2 ; MIR4728
1 1.000 0.080 17 39724748 inframe insertion -/GGGCTCCCC delins 0.700 1.000 5 2005 2012
dbSNP: rs1057519729
rs1057519729
MAP2K1
6 0.827 0.080 15 66435113 missense variant A/C snv 0.720 1.000 4 1995 2016
dbSNP: rs1057519783
rs1057519783
ALK
10 0.851 0.080 2 29220747 missense variant C/T snv 0.040 1.000 4 2014 2019
dbSNP: rs121913240
rs121913240
KRAS
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.700 1.000 4 2002 2008