rs117039649

Orientation

plus

Stabilized

plus

Make rs117039649(C;C)

Make rs117039649(C;G)

Make rs117039649(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

68808776

Gene

MDM2

is a	snp
is	mentioned by
dbSNP	rs117039649
dbSNP (classic)	rs117039649
ClinGen	rs117039649
ebi	rs117039649
HLI	rs117039649
Exac	rs117039649
Gnomad	rs117039649
Varsome	rs117039649
LitVar	rs117039649
Map	rs117039649
PheGenI	rs117039649
Biobank	rs117039649
1000 genomes	rs117039649
hgdp	rs117039649
ensembl	rs117039649
geneview	rs117039649
scholar	rs117039649
google	rs117039649
pharmgkb	rs117039649
gwascentral	rs117039649
openSNP	rs117039649
23andMe	rs117039649
SNPshot	rs117039649
SNPdbe	rs117039649
MSV3d	rs117039649
GWAS Ctlg	rs117039649

GMAF

0.01194

Max Magnitude

0

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 26224627] 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.

[PMID 31915345] MDM2 SNP 285 is Associated with Reduced Lung Cancer Risk in Bangladeshi Population.