rs2227983
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2227983(A;A) |
| Make rs2227983(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 55161562 |
| Gene | EGFR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2227983 |
| dbSNP (classic) | rs2227983 |
| ClinGen | rs2227983 |
| ebi | rs2227983 |
| HLI | rs2227983 |
| Exac | rs2227983 |
| Gnomad | rs2227983 |
| Varsome | rs2227983 |
| LitVar | rs2227983 |
| Map | rs2227983 |
| PheGenI | rs2227983 |
| Biobank | rs2227983 |
| 1000 genomes | rs2227983 |
| hgdp | rs2227983 |
| ensembl | rs2227983 |
| geneview | rs2227983 |
| scholar | rs2227983 |
| rs2227983 | |
| pharmgkb | rs2227983 |
| gwascentral | rs2227983 |
| openSNP | rs2227983 |
| 23andMe | rs2227983 |
| SNPshot | rs2227983 |
| SNPdbe | rs2227983 |
| MSV3d | rs2227983 |
| GWAS Ctlg | rs2227983 |
| Merged from | Rs11543848 |
| GMAF | 0.2989 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 17875215
] 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.
[PMID 17956637] Polymorphisms in the epidermal growth factor receptor gene and the risk of primary lung cancer: a case-control study.
[PMID 19102716] EGFR-targeted therapies in lung cancer: predictors of response and toxicity.
[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 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 19636371] Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 protein expression, and breast cancer risk in Tunisia.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 21791631] Pharmacogenetic angiogenesis profiling for first-line Bevacizumab plus oxaliplatin-based chemotherapy in patients with metastatic colorectal cancer.
[PMID 22552271] Integrated effect of EGFR and PAR-1 signaling crosstalk on airway hyperresponsiveness
[PMID 21604062] Association of rheumatoid arthritis risk with EGFR genetic polymorphisms in Taiwan's Han Chinese population.
| ClinVar | |
|---|---|
| Risk | rs2227983(A;A) rs2227983(C;C) rs2227983(T;T) |
| Alt | rs2227983(A;A) rs2227983(C;C) rs2227983(T;T) |
| Reference | Rs2227983(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Lung cancer |
| Variation | info |
| Gene | EGFR |
| CLNDBN | not specified Lung cancer |
| Reversed | 0 |
| HGVS | NC_000007.13:g.55229255G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000120690.2, RCV000314920.1, |
[PMID 24945674] Genetic variants of EGF and VEGF predict prognosis of patients with advanced esophageal squamous cell carcinoma
