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: rs121913228
rs121913228
CTNNB1
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.700 1.000 1 2014 2014
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: rs121908383
rs121908383
MUTYH
2 1.000 0.080 1 45331502 missense variant T/C snv 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: rs121913478
rs121913478
FGFR2
17 0.708 0.640 10 121515280 missense variant T/C snv 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: 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: 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: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.020 0.500 2 2019 2020
dbSNP: rs121912469
rs121912469
IRF1
2 1.000 0.080 5 132489457 missense variant T/A snv 0.700 0
dbSNP: rs1554085355
rs1554085355
APC
5 0.851 0.120 5 112839461 stop gained T/A snv 0.700 0
dbSNP: rs1342376116
rs1342376116
ARID1A
1 1 26696438 missense variant G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1440200916
rs1440200916
PDGFRA
2 4 54258803 missense variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs77543610
rs77543610
FGFR2
28 0.667 0.560 10 121520160 missense variant G/C 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: rs121909144
rs121909144
KLF6
1 10 3781852 missense variant G/A;T snv 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: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 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: 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: rs1057519803
rs1057519803
ERBB3
4 0.925 0.080 12 56088138 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs121908382
rs121908382
MUTYH
2 1.000 0.080 1 45331530 missense variant G/A snv 0.700 0
dbSNP: rs28933369
rs28933369
ERBB2 ; MIR4728
5 0.925 0.080 17 39724744 missense variant G/A snv 0.700 0
dbSNP: rs28933379
rs28933379
APC
2 1.000 0.080 5 112838953 missense variant G/A snv 0.700 0
dbSNP: rs876660765
rs876660765
APC
6 0.851 0.120 5 112815594 splice donor variant G/A snv 0.700 0