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 0.100 1.000 58 2005 2020
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.100 1.000 58 2005 2020
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.100 1.000 58 2005 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 1.000 45 2006 2020
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 14 2008 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 13 2008 2019
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.100 1.000 13 2008 2019
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.880 1.000 11 2009 2016
dbSNP: rs372043866
rs372043866
ERBB2
18 0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05 0.070 1.000 7 2008 2018
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.060 1.000 6 2008 2016
dbSNP: rs10937405
rs10937405
TP63
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.840 1.000 5 2010 2014
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.730 1.000 5 2014 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.050 1.000 5 2002 2012
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
11 0.763 0.160 7 55181312 missense variant G/T snv 0.050 1.000 5 2006 2018
dbSNP: rs397517108
rs397517108
EGFR ; EGFR-AS1
9 0.790 0.120 7 55181312 missense variant GC/TT mnv 0.050 1.000 5 2006 2018
dbSNP: rs7216064
rs7216064
BPTF
1 1.000 0.040 17 67902693 intron variant G/A snv 0.22 0.810 1.000 4 2012 2019
dbSNP: rs371769427
rs371769427
U2AF1
24 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.730 0.750 4 2016 2019
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.040 1.000 4 2011 2019
dbSNP: rs2853677
rs2853677
TERT
19 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.810 1.000 3 2012 2016
dbSNP: rs3817963
rs3817963
BTNL2 ; TSBP1-AS1
8 0.776 0.360 6 32400310 intron variant T/C snv 0.25 0.810 1.000 3 2012 2017
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.810 1.000 3 2009 2019
dbSNP: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.720 1.000 3 2016 2018
dbSNP: rs28929495
rs28929495
EGFR
9 0.807 0.120 7 55174014 missense variant G/A;C;T snv 0.720 1.000 3 2016 2018
dbSNP: rs1057519784
rs1057519784
ALK
7 0.827 0.080 2 29220765 missense variant G/T snv 0.700 1.000 3 2012 2014
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 3 2012 2016