rs2056116

A SNP on chromosome 4. Its most notable genotype is G;G: 1.41x risk for breast cancer

Gene
None listed
Location
Chr 413,008,363 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
31%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodnormalTypical · 0.047% of people
  2. A;GBad1.18x risk for breast cancerMinor · 1.242% of people
  3. G;GMost notableBad1.41x risk for breast cancerWorth knowing · 2.011% of people

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageA;A 47% A;G 42% G;G 11%
  • European ancestry (Utah)A;A 31% A;G 45% G;G 24%
  • Han Chinese (Beijing)A;A 50% A;G 42% G;G 9%
  • Japanese (Tokyo)A;A 52% A;G 36% G;G 12%
  • Yoruba (Nigeria)A;A 49% A;G 42% G;G 10%
  • African ancestry (Southwest US)A;A 56% A;G 42% G;G 2%
  • Chinese (Denver)A;A 43% A;G 43% G;G 14%
  • Gujarati IndianA;A 33% A;G 55% G;G 12%
  • Luhya (Kenya)A;A 49% A;G 43% G;G 8%
  • Mexican ancestry (Los Angeles)A;A 67% A;G 28% G;G 5%
  • Maasai (Kenya)A;A 40% A;G 41% G;G 19%
  • TuscanA;A 45% A;G 48% G;G 7%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 150 words

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).

Source and license

Adapted from rs2056116 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.