Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs180177040
BRAF
0.790 0.360 7 140754187 missense variant T/C;G snv 9
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs267601394
EZH2
0.807 0.200 7 148811635 missense variant T/A;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
rs759610249
FBXW7
0.790 0.160 4 152323032 missense variant C/T snv 8.0E-06 7.0E-06 8
rs1057519896
FBXW7
0.742 0.320 4 152326136 missense variant C/A;T snv 12
rs149680468
FBXW7
0.742 0.320 4 152326137 missense variant G/A;C;T snv 12
rs866987936
FBXW7
0.752 0.240 4 152326214 missense variant C/A;G;T snv 12
rs747241612
FBXW7
0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 12
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv 15
rs1057519941
PIK3CA
0.776 0.240 3 179203761 missense variant T/C;G snv 9
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 25
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv 13
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs486907
RNASEL
0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 1
rs754688962
SF3B1
0.851 0.200 2 197402637 missense variant T/C;G snv 5