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: rs370662884
rs370662884
CTNNB1
3 0.925 0.080 3 41225816 synonymous variant G/A snv 3.2E-05 4.9E-05 0.010 1.000 1 2003 2003
dbSNP: rs121913502
rs121913502
IDH2
19 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs138729528
rs138729528
TP53
25 0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs121913343
rs121913343
TP53
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.710 1.000 2 2016 2016
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs121913331
rs121913331
APC
11 0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 0.700 1.000 5 1990 2014
dbSNP: rs759610249
rs759610249
FBXW7
8 0.790 0.160 4 152323032 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121912666
rs121912666
TP53
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs730882005
rs730882005
TP53
20 0.701 0.400 17 7674250 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 9 2006 2016
dbSNP: rs1057520009
rs1057520009
XPO1
14 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 0.700 1.000 1 2016 2016
dbSNP: rs867384286
rs867384286
FBXW7
14 0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06 0.700 1.000 1 2016 2016
dbSNP: rs1414521156
rs1414521156
SLCO6A1
1 5 102459731 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
26 0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 12 2004 2016
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 13 2004 2016
dbSNP: rs121913283
rs121913283
PIK3CA
16 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 3 2005 2016
dbSNP: rs772110575
rs772110575
PIK3CA
7 0.807 0.160 3 179198938 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 12 2005 2014
dbSNP: rs764918809
rs764918809
MDM2
6 0.827 0.160 12 68839337 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs747241612
rs747241612
FBXW7
12 0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
TP53
21 0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121912657
rs121912657
TP53
24 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016