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 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