Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs1057519044
FGFR2
0.752 0.440 10 121517390 missense variant C/T snv 11
rs1057519803
ERBB3
0.925 0.080 12 56088138 missense variant G/A snv 2
rs1057519836
CTNNB1
3 41224630 missense variant A/C;G;T snv 2
rs1057519891
ERBB3
0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06 5
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs121908382
MUTYH
1.000 0.080 1 45331530 missense variant G/A snv 1
rs121908383
MUTYH
1.000 0.080 1 45331502 missense variant T/C snv 1
rs121909144
KLF6
10 3781852 missense variant G/A;T snv 1
rs121909775
CASP10
1.000 0.120 2 201205929 stop gained C/A;T snv 4.0E-06 2
rs121909776
CASP10
1.000 0.080 2 201187798 missense variant T/C snv 1.2E-04 2.8E-05 1
rs121912469
IRF1
1.000 0.080 5 132489457 missense variant T/A snv 1
rs121913228
CTNNB1
0.742 0.200 3 41224621 missense variant T/C;G snv 11
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 13
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv 13
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 24
rs121918491
FGFR2
0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 14
rs121918505
FGFR2
0.851 0.080 10 121520119 missense variant A/G snv 3
rs137854571
APC
1.000 0.120 5 112838793 stop gained C/T snv 2
rs137854573
APC
0.807 0.120 5 112828889 stop gained C/T snv 8
rs137854575
APC
0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 9