MDM2, MDM2 proto-oncogene, 4193

N. diseases: 702; N. variants: 30
Disease: Primary malignant neoplasm ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs117039649
rs117039649
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.050 GeneticVariation BEFREE SNP309T>G (rs2279744) and SNP285G>C (rs117039649) in the <i>MDM2</i> promoter are thought to have opposite effects on the binding of transcription factor SP1 (specificity protein 1), and consequently on <i>MDM2</i> expression, p53 levels, cancer risk, age at onset, and prognosis. 30691044 2019
dbSNP: rs117039649
rs117039649
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.050 GeneticVariation BEFREE Association of rs2279744 and rs117039649 promoter polymorphism with the risk of gynecological cancer: A meta-analysis of case-control studies. 29480845 2018
dbSNP: rs117039649
rs117039649
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.050 GeneticVariation BEFREE Two functional SNPs (SNP285G > C; rs117039649 and SNP309T > G; rs2279744) have previously been reported to modulate Sp1 transcription factor binding to the promoter of the proto-oncogene MDM2, and to influence cancer risk. 27624283 2016
dbSNP: rs117039649
rs117039649
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.050 GeneticVariation BEFREE Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649). 25327560 2014
dbSNP: rs117039649
rs117039649
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.050 GeneticVariation BEFREE In contrast, SNP285G>C (rs117039649), located 24 bp upstream of rs2279744, and in complete linkage disequilibrium with the SNP309G allele, reduces Sp1 recruitment and lowers cancer risk. 22558411 2012