Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780070
rs587780070
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Dissection of the sequence-specific DNA binding and exonuclease activities reveals a superactive yet apoptotically impaired mutant p53 protein. 19462533

2009
dbSNP: rs587780070
rs587780070
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers. 16861262

2007
dbSNP: rs587780070
rs587780070
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Dominant-negative p53 mutations selected in yeast hit cancer hot spots. 8633021

1996