rs2274223

A SNP in the PLCE1 gene on chromosome 10. Its most notable genotype is G;G: 1.9x increased risk for stomach & esophageal cancer (seen in Han Chinese)

Gene
PLCE1
Location
Chr 1094,306,584 (GRCh38)
Highest magnitude
2.4Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
28%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodnormalTypical · 0.048% of people
  2. A;GBad1.5x increased risk for stomach & esophageal cancer (seen in Han Chinese)Worth knowing · 2.042% of people
  3. G;GMost notableBad1.9x increased risk for stomach & esophageal cancer (seen in Han Chinese)Worth knowing · 2.410% 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 48% A;G 42% G;G 10%
  • European ancestry (Utah)A;A 43% A;G 50% G;G 7%
  • Han Chinese (Beijing)A;A 60% A;G 36% G;G 4%
  • Japanese (Tokyo)A;A 64% A;G 32% G;G 5%
  • Yoruba (Nigeria)A;A 40% A;G 48% G;G 12%
  • African ancestry (Southwest US)A;A 39% A;G 49% G;G 12%
  • Chinese (Denver)A;A 61% A;G 34% G;G 6%
  • Gujarati IndianA;A 55% A;G 41% G;G 4%
  • Luhya (Kenya)A;A 44% A;G 48% G;G 8%
  • Mexican ancestry (Los Angeles)A;A 67% A;G 31% G;G 2%
  • Maasai (Kenya)A;A 18% A;G 53% G;G 29%
  • TuscanA;A 40% A;G 43% G;G 17%

Conditions, medicines and genes

Other PLCE1 SNPs

All PLCE1 SNPs

Genosets

Genosets combine several genotypes. Twofold checks them in your report.

Notes

From SNPedia

Notes

rs2274223 is a SNP in the phospholipase C, epsilon 1 PLCE1 gene. In a large study of Han Chinese esophageal cancer patients [specifically esophageal squamous cell carcinoma (ESCC)], the rs2274223(G) allele was associated with greater risk (odds ratio 1.43, p = 7.4 x 10e-56).nature.com In this same study nature.com, rs2274223(G) was also associated with greater risk for gastric cancer (aka stomach cancer), with an odds ratio of 1.55 (1.74 x 10e-39).

Source and license

Adapted from rs2274223 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.