Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv 8
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs1057519981
TP53
0.689 0.440 17 7674251 missense variant A/C;G;T snv 20
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv 11
rs1057519933
PIK3CA
0.790 0.240 3 179199156 missense variant A/G snv 11
rs1057519935
PIK3CA
0.790 0.240 3 179199157 missense variant A/G snv 11
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs1057519917
MTOR
0.807 0.160 1 11124517 missense variant A/G;T snv 7
rs1057519924
NFE2L2
0.807 0.200 2 177234080 missense variant C/A snv 6
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs866775781
TP53
0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 17
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs104894226
LRRC56 ; HRAS
0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs730882005
TP53
0.701 0.400 17 7674250 missense variant C/A;G;T snv 8.0E-06 20
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
rs1057519895
FBXW7
0.724 0.240 4 152328232 missense variant C/A;G;T snv 14
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 13
rs866987936
FBXW7
0.752 0.240 4 152326214 missense variant C/A;G;T snv 12
rs80338963
SMAD4
0.776 0.280 18 51065548 missense variant C/A;G;T snv 11
rs1057519920
NFE2L2
0.790 0.160 2 177234232 missense variant C/A;G;T snv 7