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rs2293347

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) normal
(A;G) normal
(G;G) 1.1 among NSCLC patients, better Gefitinib response; common
ReferenceGRCh38 38.1/141
Chromosome7
Position55201223
GeneEGFR
is asnp
is mentioned by
dbSNPrs2293347
ebirs2293347
HLIrs2293347
Exacrs2293347
Varsomers2293347
Maprs2293347
PheGenIrs2293347
hapmaprs2293347
1000 genomesrs2293347
hgdprs2293347
ensemblrs2293347
gopubmedrs2293347
geneviewrs2293347
scholarrs2293347
googlers2293347
pharmgkbrs2293347
gwascentralrs2293347
openSNPrs2293347
23andMers2293347
23andMe allrs2293347
SNP Nexus

SNPshotrs2293347
SNPdbers2293347
MSV3drs2293347
GWAS Ctlgrs2293347
GMAF0.135
Max Magnitude1.1
? (A;A) (A;G) (G;G) 28
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).[PMID 19201048]


[PMID 17956637OA-icon.png] Polymorphisms in the epidermal growth factor receptor gene and the risk of primary lung cancer: a case-control study.


[PMID 19190167OA-icon.png] A two-stage case-control study of EGFR polymorphisms and breast cancer risk.


[PMID 19372140OA-icon.png] EGFR pathway polymorphisms and bladder cancer susceptibility and prognosis.


[PMID 19641380OA-icon.png] Candidate gene polymorphisms for diabetes mellitus, cardiovascular disease and cancer are associated with longevity in Koreans.


[PMID 21859544] [Effect of rs2293347 Polymorphism in EGFR on the Clinical Efficacy of Gefitinib in Patients with Non-small Cell Lung Cancer].


[PMID 22552271] Integrated effect of EGFR and PAR-1 signaling crosstalk on airway hyperresponsiveness


[PMID 23313300] Role of EGFR SNPs in survival of advanced lung adenocarcinoma patients treated with Gefitinib.


[PMID 23816762] Identification of a candidate single-nucleotide polymorphism related to chemotherapeutic response through a combination of knowledge-based algorithm and hypothesis-free genomic data.