Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781525
rs587781525
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: rs587781525
rs587781525
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutation. 17572079

2007

dbSNP: rs587781525
rs587781525
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 CausalMutation CLINVAR Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations. 15925506

2005

dbSNP: rs587781525
rs587781525
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR P53 germline mutations in childhood cancers and cancer risk for carrier individuals. 10864200

2000

dbSNP: rs587781525
rs587781525
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR Identification of human p53 mutations with differential effects on the bax and p21 promoters using functional assays in yeast. 9546439

1998