rs78378222, TP53

N. diseases: 37
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Basal Cell Cancer
CUI: C0751676
Disease: Basal Cell Cancer
0.700 GeneticVariation GWASCAT New basal cell carcinoma susceptibility loci. 25855136 2015
Central Nervous System Neoplasms
CUI: C0085136
Disease: Central Nervous System Neoplasms
0.700 GeneticVariation GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443 2017
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.700 GeneticVariation GWASCAT Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age. 30152087 2018
Basal Cell Neoplasm
CUI: C0206710
Disease: Basal Cell Neoplasm
0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
Plexiform leiomyoma
CUI: C2242776
Disease: Plexiform leiomyoma
0.700 GeneticVariation GWASCAT Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. 30194396 2018
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
0.700 GeneticVariation GWASDB Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. 24403052 2014
Basal Cell Neoplasm
CUI: C0206710
Disease: Basal Cell Neoplasm
0.700 GeneticVariation GWASCAT Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. 24403052 2014
Basal Cell Cancer
CUI: C0751676
Disease: Basal Cell Cancer
0.700 GeneticVariation GWASCAT Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. 27539887 2016
Basal Cell Cancer
CUI: C0751676
Disease: Basal Cell Cancer
0.700 GeneticVariation GWASCAT A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. 21946351 2011
Basal cell carcinoma
CUI: C0007117
Disease: Basal cell carcinoma
0.700 GeneticVariation GWASCAT A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. 21946351 2011
Basal Cell Neoplasm
CUI: C0206710
Disease: Basal Cell Neoplasm
0.700 GeneticVariation GWASCAT A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. 21946351 2011
Glioma
CUI: C0017638
Disease: Glioma
0.720 GeneticVariation BEFREE As rs78378222 changes the polyadenylation signal of TP53 leading to impaired 3'-end processing of TP53 mRNA, the SNP has strong plausibility for being directly functional contributing to the aetiological basis of glioma. 23571737 2013
Glioma
CUI: C0017638
Disease: Glioma
0.720 GeneticVariation BEFREE The rs78378222 SNP is the first confirmed rare susceptibility variant in glioma. 22706378 2012
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.710 GeneticVariation BEFREE The association between rs78378222 and risk was seen for both glioblastoma multiforme (GBM) and non-GBM tumours. 23571737 2013
Red Blood Cell Count measurement
CUI: C0014772
Disease: Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Lean body mass
CUI: C0424678
Disease: Lean body mass
0.700 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
Finding of Mean Corpuscular Hemoglobin
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
White Blood Cell Count procedure
CUI: C0023508
Disease: White Blood Cell Count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.030 GeneticVariation BEFREE Recently, several studies have investigated the association between a newly reported rare functional single nucleotide polymorphism (SNP) in TP53 (rs78378222) and cancer risk, but generated inconsistent findings. 23742673 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.030 GeneticVariation BEFREE Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome. 26823150 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.030 GeneticVariation BEFREE Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome. 26823150 2016
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.030 GeneticVariation BEFREE The results indicated that TP53 rs78378222 was significantly associated with an increased risk of overall canc</span>er (AC vs. AA: OR = 1.511, 95% CI = 1.285-1.777). 27147571 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.030 GeneticVariation BEFREE The results indicated that TP53 rs78378222 was significantly associated with an increased risk of overall canc</span>er (AC vs. AA: OR = 1.511, 95% CI = 1.285-1.777). 27147571 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.030 GeneticVariation BEFREE Recently, several studies have investigated the association between a newly reported rare functional single nucleotide polymorphism (SNP) in TP53 (rs78378222) and cancer risk, but generated inconsistent findings. 23742673 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.020 GeneticVariation BEFREE Further Confirmation of Germline Glioma Risk Variant rs78378222 in TP53 and Its Implication in Tumor Tissues via Integrative Analysis of TCGA Data. 25907361 2015