Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864622237
rs864622237
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. 23894400

2013
dbSNP: rs864622237
rs864622237
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. 23894400

2013
dbSNP: rs864622237
rs864622237
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR p53 Mutagenesis by benzo[a]pyrene derived radical cations. 22768918

2012
dbSNP: rs864622237
rs864622237
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Identification of a tumor-derived p53 mutant with novel transactivating selectivity. 10871862

2000
dbSNP: rs864622237
rs864622237
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions. 10229196

1999
dbSNP: rs864622237
rs864622237
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Gain-of-function mutations of the p53 gene induce lymphohematopoietic metastatic potential and tissue invasiveness. 8080050

1994