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rs2056116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 1.2 1.18x risk for breast cancer
(G;G) 2 1.41x risk for breast cancer
ReferenceGRCh38 38.1/141
Chromosome4
Position13008363
is asnp
is mentioned by
dbSNPrs2056116
ebirs2056116
HLIrs2056116
Exacrs2056116
Varsomers2056116
Maprs2056116
PheGenIrs2056116
hapmaprs2056116
1000 genomesrs2056116
hgdprs2056116
ensemblrs2056116
gopubmedrs2056116
geneviewrs2056116
scholarrs2056116
googlers2056116
pharmgkbrs2056116
gwascentralrs2056116
openSNPrs2056116
23andMers2056116
23andMe allrs2056116
SNP Nexus

SNPshotrs2056116
SNPdbers2056116
MSV3drs2056116
GWAS Ctlgrs2056116
GMAF0.3072
Max Magnitude2
? (A;A) (A;G) (G;G) 28
rs2056116 is a somewhat unusual SNP, in that it is from an "ultraconserved element" of the genome, meaning it is from a stretch of over 200 base pairs that is absolutely identical between equivalent regions of human, mouse, and rat genomes. The functions of these elements is unknown, but they are thought to have regulatory roles of various sorts. They usually have less SNPs on average than other regions of the genome.[PMID 18174240]

The (G) allele of rs2056116 was found to be associated with higher risk for breast cancer, with an odds ratio of 1.18 (CI: 1.06-1.30, p=0.002). The odds ratio for the (G;G) genotype compared to the (A;A) genotype was 1.41 (CI: 1.15-1.74, p=0.0011). When patients were divided into younger vs older women, the odds ratios were increased for women under 50 years of age; for the (G) vs (A) allele, it was 1.27 (CI: 1.11-1.45, p=0.0005), and for (G;G) vs (A;A) genotypes, it was 1.60 (CI: 1.22-2.10, p=0.0007).[PMID 18174240]


[PMID 21331621] Genetic variants in ultraconserved elements and risk of breast cancer in Chinese population


[PMID 17357075OA-icon.png] The strength of selection on ultraconserved elements in the human genome.