rs78378222, TP53

N. diseases: 37
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glioma
CUI: C0017638
Disease: Glioma
0.720 GeneticVariation GWASCAT Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21. 29743610 2018
Glioma
CUI: C0017638
Disease: Glioma
0.720 GeneticVariation GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443 2017
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 GWASCAT Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age. 30152087 2018
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.710 GeneticVariation GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443 2017
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
Uterine Fibroids
CUI: C0042133
Disease: Uterine Fibroids
0.700 GeneticVariation GWASCAT Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. 31649266 2019
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
Plexiform leiomyoma
CUI: C2242776
Disease: Plexiform leiomyoma
0.700 GeneticVariation GWASCAT Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. 31649266 2019
Basal cell carcinoma
CUI: C0007117
Disease: Basal cell carcinoma
0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
Uterine Fibroids
CUI: C0042133
Disease: Uterine Fibroids
0.700 GeneticVariation GWASCAT Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. 31649266 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
Basal Cell Cancer
CUI: C0751676
Disease: Basal Cell Cancer
0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
Birth Weight
CUI: C0005612
Disease: Birth Weight
0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Plexiform leiomyoma
CUI: C2242776
Disease: Plexiform leiomyoma
0.700 GeneticVariation GWASCAT Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. 31649266 2019
Uterine Fibroids
CUI: C0042133
Disease: Uterine Fibroids
0.700 GeneticVariation GWASCAT A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids. 31249589 2019
Plexiform leiomyoma
CUI: C2242776
Disease: Plexiform leiomyoma
0.700 GeneticVariation GWASCAT A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids. 31249589 2019
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
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
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
Uterine Fibroids
CUI: C0042133
Disease: Uterine Fibroids
0.700 GeneticVariation GWASCAT Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. 30194396 2018
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
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