Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912656
rs121912656
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR The p53-reactivating small molecule RITA induces senescence in head and neck cancer cells. 25119136

2014
dbSNP: rs121912656
rs121912656
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis. 23538418

2013
dbSNP: rs121912656
rs121912656
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR TP53 mutations and polymorphisms in primary myelofibrosis. 22052707

2012
dbSNP: rs121912656
rs121912656
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples. 21232794

2011
dbSNP: rs121912656
rs121912656
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. 20128691

2010
dbSNP: rs121912656
rs121912656
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007
dbSNP: rs121912656
rs121912656
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors. 12885464

2003
dbSNP: rs121912656
rs121912656
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs121912656
rs121912656
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining. 7783166

1995
dbSNP: rs121912656
rs121912656
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732

1992
dbSNP: rs121912656
rs121912656
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. 1565143

1992
dbSNP: rs121912656
rs121912656
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. 2259385

1991
dbSNP: rs121912656
rs121912656
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		A 0.800 GeneticVariation CLINVAR