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: rs112445441
rs112445441
KRAS
32 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
5 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: rs35187787
rs35187787
CDH1
6 0.827 0.120 16 68822063 missense variant G/A;T snv 3.3E-03; 2.4E-05 0.010 1.000 1 2001 2001
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
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.700 1.000 3 1987 2003
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 4 1987 2004
dbSNP: rs587778883
rs587778883
MLH1
7 0.807 0.200 3 37025648 frameshift variant A/- del 0.010 1.000 1 2004 2004
dbSNP: rs1042028
rs1042028
SULT1A1
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.010 1.000 1 2005 2005
dbSNP: rs1165109290
rs1165109290
SOD2
2 0.925 0.080 6 159692850 synonymous variant G/A snv 4.2E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2005 2005
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2006 2006
dbSNP: rs768231616
rs768231616
CYP1A2
3 0.882 0.120 15 74750069 frameshift variant CT/- delins 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs28933369
rs28933369
ERBB2 ; MIR4728
5 0.925 0.080 17 39724744 missense variant G/A snv 0.700 1.000 2 2004 2007
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.020 1.000 2 2006 2007