Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11540654
rs11540654
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era. 24729566

2014
dbSNP: rs11540654
rs11540654
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Mapping the p53 transcriptome universe using p53 natural polymorphs. 24076587

2014
dbSNP: rs11540654
rs11540654
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Prevalence of germline TP53 mutations in HER2+ breast cancer patients. 23580068

2013
dbSNP: rs11540654
rs11540654
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. 23894400

2013
dbSNP: rs11540654
rs11540654
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. 23894400

2013
dbSNP: rs11540654
rs11540654
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135

2011
dbSNP: rs11540654
rs11540654
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135

2011
dbSNP: rs11540654
rs11540654
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas. 17224074

2007
dbSNP: rs11540654
rs11540654
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients. 11051239

2000
dbSNP: rs11540654
rs11540654
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning. 9667734

1998
dbSNP: rs11540654
rs11540654
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations. 8023157

1994