Disease: Squamous cell carcinoma of the head and neck
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv 10
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv 13
rs1057519941
PIK3CA
0.776 0.240 3 179203761 missense variant T/C;G snv 9
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv 15
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 17
rs1057519947
PPP2R1A
0.790 0.160 19 52212730 missense variant G/A snv 9
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
rs1057519981
TP53
0.689 0.440 17 7674251 missense variant A/C;G;T snv 20
rs1057519983
TP53
0.724 0.360 17 7673797 missense variant A/G snv 16
rs1057519985
TP53
0.724 0.360 17 7673763 missense variant T/A;C;G snv 15
rs1057519989
TP53
0.732 0.240 17 7674233 missense variant C/A;G;T snv 15
rs1057519991
TP53
0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 19
rs1057519999
TP53
0.763 0.160 17 7674247 missense variant T/C;G snv 12
rs1057520002
TP53
0.695 0.360 17 7674242 missense variant A/C;G snv 20
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv 20
rs1057520007
TP53
0.701 0.440 17 7674917 missense variant T/A;C;G snv 17
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 17
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 23
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs121912656
TP53
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 20
rs121912657
TP53
0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 15
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 24