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: rs267606870
rs267606870
IDH2
0.763 0.280 15 90088703 missense variant G/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: rs121913502
rs121913502
IDH2
0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
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: rs121909229
rs121909229
PTEN
0.683 0.400 10 87933148 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: rs121909224
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05
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: rs121909237
rs121909237
PTEN
1.000 0.040 10 87933121 missense variant C/G snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.800 1.000 0 2002 2002
dbSNP: rs1057520003
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/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: rs786201057
rs786201057
TP53
0.677 0.400 17 7675995 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: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/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 		0.700 1.000 1 2016 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: rs866775781
rs866775781
TP53
0.716 0.440 17 7675216 splice acceptor variant C/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: 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: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 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: rs786203071
rs786203071
TP53
0.776 0.240 17 7675181 missense variant T/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: rs786201419
rs786201419
TP53
0.790 0.160 17 7675180 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: rs28934874
rs28934874
TP53
0.695 0.480 17 7675161 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: rs587782144
rs587782144
TP53
0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 0
dbSNP: rs786203436
rs786203436
TP53
0.701 0.280 17 7675125 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: rs148924904
rs148924904
TP53
0.724 0.360 17 7675124 missense variant T/C snv 7.0E-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: rs876660754
rs876660754
TP53
0.701 0.360 17 7675095 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: 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: rs138729528
rs138729528
TP53
0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05
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: rs967461896
rs967461896
TP53
0.724 0.240 17 7675086 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: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;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: rs587780070
rs587780070
TP53
0.683 0.320 17 7675077 missense variant G/A;C;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