Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11540652
rs11540652
0.720 GeneticVariation BEFREE Hot Spot Mutation in TP53 (R248Q) Causes Oncogenic Gain-of-Function Phenotypes in a Breast Cancer Cell Line Derived from an African American patient. 26703669

2015

dbSNP: rs11540652
rs11540652
0.720 GeneticVariation BEFREE The R248Q mutant co-localized with amyloid-like species in a breast cancer sample, which further supported its prion-like effect. 22715097

2012

dbSNP: rs11540652
rs11540652
T 0.720 CausalMutation CLINVAR