rs2293347

A SNP in the EGFR gene on chromosome 7. Its most notable genotype is C;C: among NSCLC patients, better Gefitinib response; common

Gene
EGFR
Location
Chr 755,201,223 (GRCh38)
Highest magnitude
1.1Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
14%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TNot ratednormalTypical · 0.04% of people
  2. C;TNot ratednormalTypical · 0.021% of people
  3. C;CMost notableGoodamong NSCLC patients, better Gefitinib response; commonMinor · 1.175% of people

SNPedia records rs2293347 on the minus strand: (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 10 HapMap populations.

  • AverageT;T 4% C;T 21% C;C 75%
  • European ancestry (Utah)T;T <1% C;T 18% C;C 81%
  • Han Chinese (Beijing)T;T 10% C;T 39% C;C 51%
  • Japanese (Tokyo)T;T 12% C;T 43% C;C 45%
  • Yoruba (Nigeria)T;T 0% C;T <1% C;C 99%
  • African ancestry (Southwest US)T;T 0% C;T 4% C;C 97%
  • Chinese (Denver)T;T 6% C;T 41% C;C 53%
  • Gujarati IndianT;T 7% C;T 34% C;C 59%
  • Mexican ancestry (Los Angeles)T;T 2% C;T 24% C;C 74%
  • Maasai (Kenya)T;T 0% C;T 3% C;C 97%
  • TuscanT;T 2% C;T 7% C;C 91%

Conditions, medicines and genes

Other EGFR SNPs

All EGFR SNPs

Notes

From SNPedia

Notes

rs2293347, also known as D994D, is a SNP in the epidermal growth factor receptor EGFR gene. In a study of therapeutic outcome and survival in 84 advanced non-small-cell lung cancer (NSCLC) patients treated with Gefitinib, the response rate for rs2293347(G;G) patients was almost double that of other genotypes for this SNP (71.2% versus 37.5%, p=0.0043). The rs2293347(G;G) genotype was also associated with longer progression-free survival compared with the rs2293347(A;G) or (A;A) genotypes (11 months versus 3 months, p=0.0018).

Source and license

Adapted from rs2293347 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.