Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781564
rs587781564
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
TG 0.700 GeneticVariation CLINVAR Number of rare germline CNVs and TP53 mutation types. 23259501

2012

dbSNP: rs587781564
rs587781564
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
TG 0.700 GeneticVariation CLINVAR Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. 9764816

1998