Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519699
PIK3CA
3 179218315 missense variant G/A snv 2
rs1057519740
SMAD4
18 51065532 missense variant C/A snv 1
rs1057519741
SMAD4
18 51078417 missense variant G/T snv 1
rs1057519754
AKT2
19 40236313 missense variant T/C snv 1
rs1057519760
EGFR
7 55160314 missense variant A/G snv 1
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
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21