rs1126497

A SNP in the EPCAM gene on chromosome 2. Its most notable genotype is C;T: 1.4x increased risk for breast cancer

Gene
EPCAM
Location
Chr 247,373,967 (GRCh38)
Highest magnitude
1.4Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
34%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CNot ratednormalTypical · 0.051% of people
  2. C;TMost notableBad1.4x increased risk for breast cancerMinor · 1.437% of people
  3. T;TBad1.4x increased risk for breast cancerMinor · 1.411% of people

On SNPedia: (C;C), (C;T), (T;T). 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.

  • AverageC;C 51% C;T 37% T;T 11%
  • European ancestry (Utah)C;C 22% C;T 55% T;T 23%
  • Han Chinese (Beijing)C;C 70% C;T 28% T;T 2%
  • Japanese (Tokyo)C;C 60% C;T 37% T;T 3%
  • Yoruba (Nigeria)C;C 90% C;T 10% T;T <1%
  • African ancestry (Southwest US)C;C 60% C;T 37% T;T 4%
  • Chinese (Denver)C;C 66% C;T 30% T;T 4%
  • Gujarati IndianC;C 26% C;T 49% T;T 26%
  • Luhya (Kenya)C;C 86% C;T 14% T;T 0%
  • Mexican ancestry (Los Angeles)C;C 19% C;T 59% T;T 22%
  • Maasai (Kenya)C;C 56% C;T 39% T;T 5%
  • TuscanC;C 11% C;T 52% T;T 37%

Conditions, medicines and genes

Other EPCAM SNPs

All EPCAM SNPs

Notes

From SNPedia

Notes

rs1126497, also known as Thr115Met, is a SNP in the epithelial cell adhesion molecule EPCAM gene. In a study of case control study of 1643 individuals with breast cancer and 1818 control subjects in Eastern and Southern Chinese populations, the rs1126497(T) allele was associated with a 1.4x increased risk (CI: 1.16-1.57), and it was also associated with early breast cancer onset (p=0.0023). Functional polymorphism in the EpCAM gene is associated with occurrence and advanced disease status of cervical cancer in Chinese population.

Source and license

Adapted from rs1126497 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.