Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519747
rs1057519747
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Expression of circulating miRNAs associated with lymphocyte differentiation and activation in CLL-another piece in the puzzle. 27730344

2017
dbSNP: rs1057519747
rs1057519747
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Lenalidomide normalizes tumor vessels in colorectal cancer improving chemotherapy activity. 27149858

2016
dbSNP: rs1057519747
rs1057519747
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Targeted sequencing of refractory myeloma reveals a high incidence of mutations in CRBN and Ras pathway genes. 27458004

2016
dbSNP: rs1057519747
rs1057519747
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Patterns and Biologic Features of p53 Mutation Types in Korean Breast Cancer Patients. 24744791

2014
dbSNP: rs1057519747
rs1057519747
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs1057519747
rs1057519747
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR MGMT promoter hypermethylation is a frequent, early, and consistent event in astrocytoma progression, and not correlated with TP53 mutation. 20593220

2011
dbSNP: rs1057519747
rs1057519747
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Presence of dominant negative mutation of TP53 is a risk of early recurrence in oral cancer. 18555592

2008
dbSNP: rs1057519747
rs1057519747
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Effects of p53 mutants derived from lung carcinomas on the p53-responsive element (p53RE) of the MDM2 gene. 9472631

1998
dbSNP: rs1057519747
rs1057519747
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR A simple p53 functional assay for screening cell lines, blood, and tumors. 7732013

1995
dbSNP: rs1057519747
rs1057519747
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR