rs11540654, TP53

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Validation of a yeast functional assay for p53 mutations using clonal sequencing. 23897043 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era. 24729566 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Mapping the p53 transcriptome universe using p53 natural polymorphs. 24076587 2014
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Mapping the p53 transcriptome universe using p53 natural polymorphs. 24076587 2014
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Mapping the p53 transcriptome universe using p53 natural polymorphs. 24076587 2014
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.010 GeneticVariation BEFREE We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654 (R110P), rs17849781 (P278A) and rs28934874 (P151T) in TP53 with a phenotype in breast tumors using computational tools SIFT, Polyphen-2 and MutDB. 25105660 2014