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: rs36053993
rs36053993
MUTYH
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.700 1.000 23 2002 2014
dbSNP: rs121434595
rs121434595
NRAS
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1342376116
rs1342376116
ARID1A
1 1 26696438 missense variant G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs121908382
rs121908382
MUTYH
2 1.000 0.080 1 45331530 missense variant G/A snv 0.700 0
dbSNP: rs121908383
rs121908383
MUTYH
2 1.000 0.080 1 45331502 missense variant T/C snv 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
dbSNP: rs1553125914
rs1553125914
MUTYH
2 1.000 0.120 1 45331512 frameshift variant -/TC delins 0.700 0
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.700 0
dbSNP: rs372267274
rs372267274
MUTYH
5 0.882 0.120 1 45333171 splice acceptor variant C/G;T snv 0.700 0
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: 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: rs121909775
rs121909775
CASP10
2 1.000 0.120 2 201205929 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs121909776
rs121909776
CASP10
2 1.000 0.080 2 201187798 missense variant T/C snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs1057519836
rs1057519836
CTNNB1
2 3 41224630 missense variant A/C;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913228
rs121913228
CTNNB1
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs121913403
rs121913403
CTNNB1
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 0
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: rs121913281
rs121913281
PIK3CA
37 0.623 0.520 3 179234296 missense variant 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: rs1440200916
rs1440200916
PDGFRA
2 4 54258803 missense variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121912469
rs121912469
IRF1
2 1.000 0.080 5 132489457 missense variant T/A snv 0.700 0
dbSNP: rs137854571
rs137854571
APC
2 1.000 0.120 5 112838793 stop gained C/T snv 0.700 0
dbSNP: rs137854573
rs137854573
APC
10 0.807 0.120 5 112828889 stop gained C/T snv 0.700 0
dbSNP: rs137854575
rs137854575
APC
9 0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 0.700 0