Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11540652
rs11540652
TP53
0.020 GeneticVariation BEFREE This study investigated regulators of mutant TP53 (R248Q) in basal-like TNBC and their impact on tumorigenesis. 30349649

2018
dbSNP: rs11540652
rs11540652
TP53
0.020 GeneticVariation BEFREE P53 mutation plays a pivotal role in tumorigenesis of endometrial cancer (EC), here we report that the gain-of-function mutant p53-R248Q targets the proteasome activator REGγ to promote EC progression. 25697482

2015