Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519876
ARAF
0.882 0.160 X 47566721 missense variant T/G snv 3
rs267601395
EZH2
0.925 0.160 7 148811636 missense variant A/G;T snv 3
rs1057519894
EZH2
0.925 0.160 7 148811650 missense variant T/A;G snv 2
rs28931588
CTNNB1
0.701 0.200 3 41224606 missense variant G/A;C;T snv 14
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv 13
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv 11
rs121913399
CTNNB1
0.724 0.200 3 41224612 missense variant G/A;C snv 10
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
rs1057519890
ERBB2
0.807 0.200 17 39723966 missense variant T/A snv 7
rs121913470
ERBB2
0.776 0.200 17 39723967 missense variant T/C;G snv 7
rs756091827
MYC ; CASC11
0.851 0.200 8 127738435 missense variant C/G;T snv 6
rs104894340
CDK4
0.827 0.200 12 57751647 missense variant C/A;T snv 5
rs1057519918
CASC11 ; MYC
0.851 0.200 8 127738390 missense variant C/T snv 5
rs1057519956
CNOT9
0.827 0.200 2 218583025 missense variant T/C snv 5
rs1057519957
CNOT9
0.827 0.200 2 218583026 missense variant C/G snv 5
rs750664148
CASC11 ; MYC
0.851 0.200 8 127738434 missense variant A/C;G snv 5
rs754688962
SF3B1
0.851 0.200 2 197402637 missense variant T/C;G snv 5
rs1057519959
SF3B2
0.882 0.200 11 66063028 missense variant A/C snv 4
rs267601394
EZH2
0.807 0.200 7 148811635 missense variant T/A;G snv 3
rs121912660
TP53
0.683 0.240 17 7673781 missense variant C/A;G;T snv 18
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 17
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 13
rs1057520006
TP53
0.752 0.240 17 7673799 missense variant A/C;G;T snv 12
rs747241612
FBXW7
0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 12