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: rs372267274
rs372267274
MUTYH
5 0.882 0.120 1 45333171 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs397515734
rs397515734
APC
7 0.827 0.120 5 112792494 stop gained C/T snv 0.700 0
dbSNP: rs587776802
rs587776802
PIK3CA
2 1.000 0.080 3 179234358 frameshift variant -/A delins 0.700 0
dbSNP: rs587781392
rs587781392
APC
7 0.827 0.120 5 112780895 stop gained C/G;T snv 0.700 0
dbSNP: rs77543610
rs77543610
FGFR2
28 0.667 0.560 10 121520160 missense variant G/C snv 0.700 0
dbSNP: rs786201856
rs786201856
APC
10 0.776 0.200 5 112815507 stop gained C/T snv 0.700 0
dbSNP: rs863225311
rs863225311
APC
7 0.827 0.120 5 112819347 splice region variant A/C;G snv 0.700 0
dbSNP: rs876660765
rs876660765
APC
6 0.851 0.120 5 112815594 splice donor variant G/A snv 0.700 0
dbSNP: rs1057519891
rs1057519891
ERBB3
6 0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1452231640
rs1452231640
POLB
4 1.000 0.080 8 42339015 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs587780088
rs587780088
MUTYH
5 0.882 0.120 1 45334493 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs121918491
rs121918491
FGFR2
15 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
dbSNP: rs149633775
rs149633775
TP53
2 1.000 0.120 17 7673773 missense variant G/A;C;T snv 7.2E-05; 4.0E-06 0.700 0
dbSNP: rs1434545235
rs1434545235
FGFR2
11 0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs121909775
rs121909775
CASP10
2 1.000 0.120 2 201205929 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs62619935
rs62619935
APC
8 0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs79184941
rs79184941
FGFR2
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 0
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 1 2015 2015
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 0
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1431341935
rs1431341935
SORD
1 15 45023318 frameshift variant -/G delins 4.5E-06 0.010 1.000 1 2015 2015
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs145945630
rs145945630
APC
7 0.827 0.120 5 112754960 stop gained C/T snv 2.4E-05 0.700 0
dbSNP: rs587781628
rs587781628
MUTYH
5 0.882 0.120 1 45331558 splice acceptor variant T/C snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs140342925
rs140342925
MUTYH
5 0.882 0.120 1 45332445 missense variant C/T snv 8.4E-05 8.4E-05 0.700 0