rs35850753, TP53

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.710 GeneticVariation GWASCAT Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma. 28545128 2017
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.710 GeneticVariation BEFREE We report on the analysis of three independent case-control cohorts comprising 10290 individuals and demonstrate that rs78378222 and rs35850753, rare germline variants in linkage disequilibrium that map to the 3' untranslated region (UTR) of TP53 and 5' UTR of the Δ133 isoform of TP53, respectively, are robustly associated with neuroblastoma (rs35850753: odds ratio [OR] = 2.7, 95% confidence interval [CI] = 2.0 to 3.6, P combined = 3.43×10(-12); rs78378222: OR = 2.3, 95% CI = 1.8 to 2.9, P combined = 2.03×10(-11)).All statistical tests were two-sided. 24634504 2014