Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786201057
rs786201057
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage. 28369373

2017
dbSNP: rs786201057
rs786201057
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Modeling the Etiology of p53-mutated Cancer Cells. 27022024

2016
dbSNP: rs786201057
rs786201057
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 26014290

2015
dbSNP: rs786201057
rs786201057
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. 25503501

2015
dbSNP: rs786201057
rs786201057
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR TP53 mutations in Korean patients with non-small cell lung cancer. 20436704

2010
dbSNP: rs786201057
rs786201057
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Genetic diagnosis of familial breast cancer using clonal sequencing. 20127978

2010
dbSNP: rs786201057
rs786201057
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. 20407015

2010
dbSNP: rs786201057
rs786201057
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Association of the germline TP53 R337H mutation with breast cancer in southern Brazil. 19046423

2008
dbSNP: rs786201057
rs786201057
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR The biological impact of the human master regulator p53 can be altered by mutations that change the spectrum and expression of its target genes. 16508005

2006
dbSNP: rs786201057
rs786201057
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003