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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.927 41 2007 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.927 41 2007 2018
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.050 1.000 5 2014 2020
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.040 1.000 4 2009 2018
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.030 1.000 3 2007 2017
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.020 1.000 2 2015 2018
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.020 1.000 2 2015 2018
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.020 1.000 2 2015 2018
dbSNP: rs121909218
rs121909218
PTEN
25 0.672 0.360 10 87933145 missense variant G/A snv 0.020 1.000 2 2002 2004
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2012 2017
dbSNP: rs1418810723
rs1418810723
FN1
9 0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 0.020 1.000 2 2007 2011
dbSNP: rs1022088103
rs1022088103
MMP2
1 16 55485759 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1033313160
rs1033313160
MAPKAP1
1 9 125506375 missense variant G/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs104894403
rs104894403
GJB2
7 0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2015 2015
dbSNP: rs1057519788
rs1057519788
ROS1
6 0.925 0.080 6 117317184 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2015 2015
dbSNP: rs1057519906
rs1057519906
IDH2
8 0.882 0.120 15 90088607 missense variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1064793929
rs1064793929
TP53
5 0.882 0.280 17 7675167 frameshift variant A/-;AA delins 0.010 1.000 1 2013 2013
dbSNP: rs1114167628
rs1114167628
PTEN
5 0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 0.010 1.000 1 2013 2013
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs11568818
rs11568818
MMP7
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1172398253
rs1172398253
CCN1
4 0.925 0.080 1 85582045 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1194338
rs1194338 		3 0.925 0.080 11 65493967 upstream gene variant C/A;T snv 0.010 1.000 1 2019 2019