rs2227983

A SNP in the EGFR gene on chromosome 7. Its most notable genotype is G;G: common in clinvar

Gene
EGFR
Location
Chr 755,161,562 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
30%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. G;GMost notableGoodcommon in clinvarTypical · 0.055% of people

On SNPedia: (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.

  • AverageG;G 55%
  • European ancestry (Utah)G;G 52%
  • Han Chinese (Beijing)G;G 23%
  • Japanese (Tokyo)G;G 12%
  • Yoruba (Nigeria)G;G 88%
  • African ancestry (Southwest US)G;G 80%
  • Chinese (Denver)G;G 21%
  • Gujarati IndianG;G 37%
  • Luhya (Kenya)G;G 94%
  • Mexican ancestry (Los Angeles)G;G 50%
  • Maasai (Kenya)G;G 90%
  • TuscanG;G 58%

Other EGFR SNPs

All EGFR SNPs

Notes

From SNPedia

Show notes, about 180 words

Epidermal growth factor receptor (EGFR) is transcriptionally induced by the Y-box binding protein-1 (YB-1) and can be inhibited with Iressa in basal-like breast cancer, providing a potential target for therapy. Polymorphisms in the epidermal growth factor receptor gene and the risk of primary lung cancer: a case-control study. EGFR-targeted therapies in lung cancer: predictors of response and toxicity. A two-stage case-control study of EGFR polymorphisms and breast cancer risk. EGFR pathway polymorphisms and bladder cancer susceptibility and prognosis. Development of a fingerprinting panel using medically relevant polymorphisms. Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 protein expression, and breast cancer risk in Tunisia. Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. Pharmacogenetic angiogenesis profiling for first-line Bevacizumab plus oxaliplatin-based chemotherapy in patients with metastatic colorectal cancer.

Source and license

Adapted from rs2227983 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.