Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519754
AKT2
19 40236313 missense variant T/C snv 1
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 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
rs1801166
APC
0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 1
rs74535574
APC
5 112839879 stop gained C/A;T snv 1
rs1023835002
B2M ; PATL2
0.763 0.280 15 44711547 start lost A/G;T snv 10
rs1057519877
B2M ; PATL2
0.763 0.280 15 44711549 start lost G/A snv 10
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs397516896
BRAF
0.763 0.360 7 140753355 missense variant C/G;T snv 11
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs121913370
BRAF
0.763 0.360 7 140753393 missense variant T/C;G snv 9
rs180177040
BRAF
0.790 0.360 7 140754187 missense variant T/C;G snv 9
rs121913361
BRAF
0.807 0.280 7 140753349 missense variant C/A;G;T snv 6
rs727502902
BRAF
0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06 4
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2