Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913471
MIR4728 ; ERBB2
0.807 0.120 17 39724747 missense variant G/A;C;T snv 3
rs1057519724
PTEN
1.000 0.080 10 87933236 missense variant G/A;T snv 3
rs281875324
SMAD4
1.000 0.120 18 51065456 missense variant A/C;G snv 3
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
rs727502902
BRAF
0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06 4
rs1057519908
MAP2K1
0.882 0.120 15 66435105 missense variant T/G snv 4
rs1057519945
POLE
0.776 0.200 12 132673703 missense variant C/A;T snv 4
rs121913289
PTEN
1.000 0.080 10 87958013 frameshift variant A/- delins 4
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 5
rs1057519862
ERBB2
0.851 0.160 17 39723405 missense variant G/A snv 5
rs1057519906
IDH2
0.882 0.120 15 90088607 missense variant T/A;C snv 5
rs121913503
IDH2
0.689 0.200 15 90088606 missense variant C/A;T snv 5
rs121913535
KRAS
0.742 0.320 12 25245348 missense variant C/A;G;T snv 5
rs1057519728
MAP2K1
0.851 0.120 15 66435103 missense variant T/A;C;G snv 5
rs1057519841
PIK3R1
0.925 0.120 5 68295269 missense variant A/G snv 5
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv 5
rs1057519944
POLE
0.882 0.160 12 132676599 missense variant G/A snv 5
rs1057519952
RHOA
0.882 0.160 3 49375577 missense variant G/A snv 5
rs1057519953
RHOA
0.807 0.200 3 49375576 missense variant C/A;T snv 5
rs121913344
TP53
0.925 0.200 17 7673704 stop gained G/A;T snv 5
rs1057520009
XPO1
0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 5
rs1057520010
XPO1
0.882 0.200 2 61492336 missense variant T/A;G snv 5
rs121913361
BRAF
0.807 0.280 7 140753349 missense variant C/A;G;T snv 6
rs121913502
IDH2
0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 6