Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519889
rs1057519889
EP300
0.807 0.200 22 41169525 missense variant G/A;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519911
rs1057519911
MAPK1
0.776 0.160 22 21772875 missense variant C/T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.710 1.000 1 2015 2016
dbSNP: rs371769427
rs371769427
U2AF1
0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs11554273
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519910
rs1057519910
MAP2K2
0.851 0.160 19 4117551 missense variant A/C;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519946
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519947
rs1057519947
PPP2R1A
0.790 0.160 19 52212730 missense variant G/A snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs121434498
rs121434498
MAP2K2
0.807 0.280 19 4117553 missense variant A/C;G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs377767347
rs377767347
SMAD4
0.742 0.520 18 51065549 missense variant G/A;C;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs80338963
rs80338963
SMAD4
0.776 0.280 18 51065548 missense variant C/A;G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519816
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519977
rs1057519977
TP53
0.763 0.360 17 7675189 missense variant G/C snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519978
rs1057519978
TP53
0.763 0.360 17 7675191 missense variant A/C;G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519981
rs1057519981
TP53
0.689 0.440 17 7674251 missense variant A/C;G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519983
rs1057519983
TP53
0.724 0.360 17 7673797 missense variant A/G snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519985
rs1057519985
TP53
0.724 0.360 17 7673763 missense variant T/A;C;G snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519986
rs1057519986
TP53
0.776 0.240 17 7673811 missense variant A/C;G snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519987
rs1057519987
TP53
0.776 0.280 17 7673810 missense variant A/C snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519988
rs1057519988
TP53
0.776 0.240 17 7673812 missense variant A/C;G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519989
rs1057519989
TP53
0.732 0.240 17 7674233 missense variant C/A;G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519991
rs1057519991
TP53
0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.710 1.000 1 2003 2016
dbSNP: rs1057519996
rs1057519996
TP53
0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
TP53
0.763 0.160 17 7674247 missense variant T/C;G snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016