Disease: Squamous cell carcinoma of lung
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs104894226
LRRC56 ; HRAS
0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs1057519895
FBXW7
0.724 0.240 4 152328232 missense variant C/A;G;T snv 14
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv 5
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 23
rs1057519926
PIK3CA
0.776 0.200 3 179210293 missense variant A/T snv 10
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv 8
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs1057519977
TP53
0.763 0.360 17 7675189 missense variant G/C snv 13
rs1057519978
TP53
0.763 0.360 17 7675191 missense variant A/C;G;T snv 12
rs1057519986
TP53
0.776 0.240 17 7673811 missense variant A/C;G snv 10
rs1057519987
TP53
0.776 0.280 17 7673810 missense variant A/C snv 9
rs1057519988
TP53
0.776 0.240 17 7673812 missense variant A/C;G;T snv 10
rs1057519991
TP53
0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 19
rs1057519996
TP53
0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 16
rs1057519997
TP53
0.776 0.320 17 7676037 missense variant A/C;G;T snv 9
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv 20
rs1057520004
TP53
0.752 0.240 17 7674884 missense variant A/C;T snv 11
rs1057520007
TP53
0.701 0.440 17 7674917 missense variant T/A;C;G snv 17
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 23