Rs2056116

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.

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).