Source: CURATED ×
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: rs112445441
rs112445441
KRAS
9 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1203145163
rs1203145163
TFF1 ; LOC105372815
1 1.000 0.080 21 42363329 missense variant C/A snv 7.0E-06 0.700 0
dbSNP: rs1400295986
rs1400295986
APC
2 0.925 0.080 5 112838233 missense variant T/C snv 0.700 0
dbSNP: rs1555515731
rs1555515731
CDH1
4 0.882 0.160 16 68812189 frameshift variant T/- delins 0.700 0
dbSNP: rs180177133
rs180177133
PALB2
9 0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs202208566
rs202208566
TCHP
1 1.000 0.080 12 109903156 missense variant T/C snv 6.5E-04 1.7E-04 0.700 0
dbSNP: rs367807476
rs367807476
STK11
1 1.000 0.080 19 1223035 missense variant C/G;T snv 9.2E-06 1.4E-05 0.700 0
dbSNP: rs372481703
rs372481703
APC
1 1.000 0.080 5 112839106 missense variant G/A snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs587780537
rs587780537
CDH1
3 0.925 0.080 16 68810224 missense variant G/A snv 0.700 0
dbSNP: rs121912470
rs121912470
IRF1
2 0.925 0.120 5 132489448 missense variant A/G snv 0.700 1.000 2 1998 1999
dbSNP: rs104894361
rs104894361
KRAS
3 0.882 0.240 12 25245370 missense variant T/A;C;G snv 4.0E-06 0.700 1.000 3 1987 2003
dbSNP: rs121913528
rs121913528
KRAS
12 0.851 0.160 12 25227349 missense variant C/A;T snv 0.700 1.000 3 1987 2003
dbSNP: rs121913530
rs121913530
KRAS
13 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.700 1.000 3 1987 2003
dbSNP: rs121913529
rs121913529
KRAS
21 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 3 1987 2004
dbSNP: rs28933369
rs28933369
ERBB2 ; MIR4728
4 0.925 0.080 17 39724744 missense variant G/A snv 0.700 1.000 2 2004 2007
dbSNP: rs2285947
rs2285947
DNAH11
3 0.807 0.120 7 21544470 intron variant G/A snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs2494938
rs2494938
LRFN2
3 0.752 0.240 6 40568389 intron variant G/A snv 0.51 0.700 1.000 1 2012 2012
dbSNP: rs3781264
rs3781264
PLCE1
3 0.851 0.120 10 94310618 intron variant A/G snv 0.25 0.710 1.000 1 2010 2012
dbSNP: rs121912469
rs121912469
IRF1
2 1.000 0.080 5 132489457 missense variant T/A snv 0.700 1.000 3 1998 2014
dbSNP: rs121909776
rs121909776
CASP10
2 1.000 0.080 2 201187798 missense variant T/C snv 1.2E-04 2.8E-05 0.700 1.000 2 2002 2014
dbSNP: rs28933379
rs28933379
APC
2 1.000 0.080 5 112838953 missense variant G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs121908382
rs121908382
MUTYH
2 1.000 0.080 1 45331530 missense variant G/A snv 0.700 1.000 3 2004 2015
dbSNP: rs121908383
rs121908383
MUTYH
2 1.000 0.080 1 45331502 missense variant T/C snv 0.700 1.000 3 2004 2015
dbSNP: rs140081212
rs140081212
GBAP1
2 0.925 0.080 1 155215184 non coding transcript exon variant G/A snv 0.700 1.000 1 2015 2015