rs2293347
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | normal | |
| (A;G) | normal | |
| (G;G) | 1.1 | among NSCLC patients, better Gefitinib response; common |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 55201223 |
| Gene | EGFR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2293347 |
| dbSNP (classic) | rs2293347 |
| ClinGen | rs2293347 |
| ebi | rs2293347 |
| HLI | rs2293347 |
| Exac | rs2293347 |
| Gnomad | rs2293347 |
| Varsome | rs2293347 |
| LitVar | rs2293347 |
| Map | rs2293347 |
| PheGenI | rs2293347 |
| Biobank | rs2293347 |
| 1000 genomes | rs2293347 |
| hgdp | rs2293347 |
| ensembl | rs2293347 |
| geneview | rs2293347 |
| scholar | rs2293347 |
| rs2293347 | |
| pharmgkb | rs2293347 |
| gwascentral | rs2293347 |
| openSNP | rs2293347 |
| 23andMe | rs2293347 |
| SNPshot | rs2293347 |
| SNPdbe | rs2293347 |
| MSV3d | rs2293347 |
| GWAS Ctlg | rs2293347 |
| GMAF | 0.135 |
| Max Magnitude | 1.1 |
| ? | (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 17956637
] Polymorphisms in the epidermal growth factor receptor gene and the risk of primary lung cancer: a case-control study.
[PMID 19190167] A two-stage case-control study of EGFR polymorphisms and breast cancer risk.
[PMID 19372140] EGFR pathway polymorphisms and bladder cancer susceptibility and prognosis.
[PMID 19641380] 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.
| ClinVar | |
|---|---|
| Risk | Rs2293347(A;A) |
| Alt | Rs2293347(A;A) |
| Reference | Rs2293347(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Lung cancer |
| Variation | info |
| Gene | EGFR |
| CLNDBN | not specified Lung cancer |
| Reversed | 1 |
| HGVS | NC_000007.13:g.55268916C>T |
| CLNSRC | |
| CLNACC | RCV000248744.1, RCV000329166.1, |
[PMID 31906817] Association between epidermal growth factor (EGF) and EGF receptor gene polymorphisms and end-stage renal disease and acute renal allograft rejection in a Korean population.
