Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv 1
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 26
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 24
rs786201059
TP53
0.701 0.360 17 7673764 stop gained C/A;G;T snv 19
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 5
rs121913344
TP53
0.925 0.200 17 7673704 stop gained G/A;T snv 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
rs121913327
APC
0.925 0.120 5 112839606 stop gained C/G;T snv 3
rs121913326
APC
5 112839729 stop gained G/T snv 1
rs121913328
APC
5 112839693 stop gained C/T snv 1
rs121913329
APC
5 112839726 stop gained C/T snv 1
rs121913462
APC
5 112839510 stop gained G/A;T snv 1
rs74535574
APC
5 112839879 stop gained C/A;T snv 1
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34