Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912656
rs121912656
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.710 GeneticVariation BEFREE We show here that overexpression of the GOF mutant p53 G245D and other GOF p53 mutants enhances the invasive cell growth of p53-deficient head and neck squamous cell carcinoma (HNSCC) UM-SCC-1 cells both in in vitro three-dimensional culture and in an in vivo orthotopic nude mouse model of HNSCC through a novel transcription-independent mechanism. 29269868 2018
dbSNP: rs1057519991
rs1057519991
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
G 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121912656
rs121912656
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121912656
rs121912656
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121912656
rs121912656
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
G 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121912666
rs121912666
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121912666
rs121912666
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
G 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121912666
rs121912666
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.710 GeneticVariation BEFREE Our analysis of p53 in 10 additional HLA-A2(+) SCCHN tumors detected the p53 Y220C in 2/10 tumors raising the overall frequency of the p53 Y220C mutation to 6/50 (12%) HLA-A2(+) SCCHN tumors. 17294448 2007
dbSNP: rs1057519991
rs1057519991
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.710 GeneticVariation BEFREE Combinations of the Y113H and H139R polymorphic EPHX1 variants have been assumed to alter the enzyme activity and thus the risk of squamous cell head and neck cancer (SCCHN). 12491039 2003
dbSNP: rs1057519747
rs1057519747
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519747
rs1057519747
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519977
rs1057519977
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519978
rs1057519978
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519978
rs1057519978
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519978
rs1057519978
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519981
rs1057519981
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519981
rs1057519981
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519983
rs1057519983
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519985
rs1057519985
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519985
rs1057519985
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519986
rs1057519986
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519986
rs1057519986
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519987
rs1057519987
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519988
rs1057519988
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519988
rs1057519988
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016