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: 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