Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777894
MTOR
0.776 0.240 1 11124516 missense variant G/A;T snv 9
rs1057519917
MTOR
0.807 0.160 1 11124517 missense variant A/G;T snv 7
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 7
rs121918465
PTPN11
0.827 0.200 12 112450407 missense variant A/C;G;T snv 6
rs397507546
PTPN11
0.790 0.360 12 112489084 missense variant G/A;C;T snv 6
rs121913333
APC
0.882 0.120 5 112838220 stop gained C/A;T snv 4
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 5
rs121913462
APC
5 112839510 stop gained G/A;T 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
rs1801166
APC
0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 1
rs121913327
APC
0.925 0.120 5 112839606 stop gained C/G;T snv 3
rs121913328
APC
5 112839693 stop gained C/T snv 1
rs121913329
APC
5 112839726 stop gained C/T snv 1
rs121913326
APC
5 112839729 stop gained G/T snv 1
rs74535574
APC
5 112839879 stop gained C/A;T snv 1
rs121913332
APC
0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06 4
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs121434596
NRAS
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 14
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv 12
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49 1
rs1057519945
POLE
0.776 0.200 12 132673703 missense variant C/A;T snv 4