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 Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning. 9667734 1998
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning. 9667734 1998
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Screening the p53 status of human cell lines using a yeast functional assay. 9290701 1997
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations. 8023157 1994
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 GeneticVariation CLINVAR
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