Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. 20128691

2010
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma. 23175693

2013
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Prognostic significance of TP53 alterations in breast carcinoma. 8102535

1993
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Integrative clinical genomics of advanced prostate cancer. 26000489

2015
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations. 15925506

2005
dbSNP: rs397514495
rs397514495
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: rs397514495
rs397514495
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: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations. 15925506

2005
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma. 23175693

2013
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Germline p53 gene mutations in subsets of glioma patients. 8308926

1994
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements. 11429705

2001
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. 21059199

2010
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR ERBB2 gene as a potential therapeutic target in small bowel adenocarcinoma. 24797764

2014
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations. 15580553

2005
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR TP53 hotspot mutations are predictive of survival in primary central nervous system lymphoma patients treated with combination chemotherapy. 27101868

2016
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Inherited p53 gene mutations in breast cancer. 1581912

1992
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Germline p53 gene mutations in subsets of glioma patients. 8308926

1994
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Inherited p53 gene mutations in breast cancer. 1581912

1992
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Alteration of p53 gene in ovarian carcinoma: clinicopathological correlation and prognostic significance. 7981076

1994
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. 21059199

2010
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732

1992
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 GeneticVariation UNIPROT Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. 10484981

1999
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 GeneticVariation UNIPROT A germ line mutation in exon 5 of the p53 gene in an extended cancer family. 1933902

1991