Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876658468
rs876658468
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011

dbSNP: rs876658468
rs876658468
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. 18685109

2008

dbSNP: rs876658468
rs876658468
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. 7887414

1995