Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587776802
PIK3CA
1.000 0.080 3 179234358 frameshift variant -/A delins 2
rs1553125914
MUTYH
1.000 0.120 1 45331512 frameshift variant -/TC delins 2
rs863225311
APC
0.827 0.120 5 112819347 splice region variant A/C;G snv 7
rs1057519836
CTNNB1
3 41224630 missense variant A/C;G;T snv 2
rs121918505
FGFR2
0.851 0.080 10 121520119 missense variant A/G snv 3
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 24
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 13
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs137854575
APC
0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 9
rs121909775
CASP10
1.000 0.120 2 201205929 stop gained C/A;T snv 4.0E-06 2
rs587781392
APC
0.827 0.120 5 112780895 stop gained C/G;T snv 7
rs62619935
APC
0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 7
rs372267274
MUTYH
0.882 0.120 1 45333171 splice acceptor variant C/G;T snv 5
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs121918491
FGFR2
0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 14
rs1057519044
FGFR2
0.752 0.440 10 121517390 missense variant C/T snv 11
rs1554927408
FGFR2
0.742 0.480 10 121515254 missense variant C/T snv 11
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 9
rs137854573
APC
0.807 0.120 5 112828889 stop gained C/T snv 8
rs786201856
APC
0.776 0.200 5 112815507 stop gained C/T snv 8
rs145945630
APC
0.827 0.120 5 112754960 stop gained C/T snv 2.4E-05 7
rs397515734
APC
0.827 0.120 5 112792494 stop gained C/T snv 7