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rs117039649

From SNPedia

Orientationplus
Stabilizedplus
Make rs117039649(C;C)
Make rs117039649(C;G)
Make rs117039649(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position68808776
GeneMDM2
is asnp
is mentioned by
dbSNPrs117039649
ebirs117039649
HLIrs117039649
Exacrs117039649
Varsomers117039649
Maprs117039649
PheGenIrs117039649
hapmaprs117039649
1000 genomesrs117039649
hgdprs117039649
ensemblrs117039649
gopubmedrs117039649
geneviewrs117039649
scholarrs117039649
googlers117039649
pharmgkbrs117039649
gwascentralrs117039649
openSNPrs117039649
23andMers117039649
23andMe allrs117039649
SNP Nexus

SNPshotrs117039649
SNPdbers117039649
MSV3drs117039649
GWAS Ctlgrs117039649
GMAF0.01194
Max Magnitude
rs117039649, also known as SNP285 or SNP285C, is a SNP in an intron of the MDM2 p53 binding protein homolog gene.

This SNP appears to only be found (so far) in Caucasians, and, in a subset of the alleles carrying the SNP309G>C (rs2279744) variant.

A 2011 study comparing MDM2 promoter status among different cohorts of ovarian cancer (n = 1993) and breast cancer (n = 1973) patients concluded that rs117039649(C) carriers were at reduced risk for both ovarian (odds ratio 0.74, CI: 0.58-0.94) and breast (odds ratio 0.79, CI: 0.62-1.00) cancer compared to SNP309G carriers (lacking SNP285).[PMID 21316605]

[PMID 26224627OA-icon.png] Murine Double-Minute 2 Homolog Single Nucleotide Polymorphisms 285 and 309 in Cervical Carcinogenesis [PMID 27624283] MDM2 promoter SNP55 (rs2870820) affects risk of colon cancer but not breast-, lung-, or prostate cancer.