Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 13
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 11
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs137854575
APC
0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 9
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
rs387906234
APC
0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins 7
rs397515734
APC
0.827 0.120 5 112792494 stop gained C/T snv 7
rs587781392
APC
0.827 0.120 5 112780895 stop gained C/G;T snv 7
rs587783031
APC
0.851 0.120 5 112840255 frameshift variant A/-;AA delins 7
rs62619935
APC
0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 7
rs863225311
APC
0.827 0.120 5 112819347 splice region variant A/C;G snv 7
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 6
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 5
rs137854568
APC
0.882 0.120 5 112815564 stop gained C/T snv 5
rs587779352
APC
0.882 0.120 5 112838774 frameshift variant ACAAA/- delins 5
rs121913332
APC
0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06 4
rs121913333
APC
0.882 0.120 5 112838220 stop gained C/A;T snv 4
rs137854572
APC
0.882 0.120 5 112828001 stop gained C/T snv 4