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
Eosinophil count procedure
CUI: C0200638
Disease: Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.700 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for glioma. 26424050 2015
Central Nervous System Neoplasms
CUI: C0085136
Disease: Central Nervous System Neoplasms
0.700 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for glioma. 26424050 2015
Glioma
CUI: C0017638
Disease: Glioma
0.700 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for glioma. 26424050 2015
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.700 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for glioma. 26424050 2015
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.010 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
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
0.010 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