rs712830
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs712830(A;C) |
| Make rs712830(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 55019087 |
| Gene | EGFR, LOC105375284 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs712830 |
| dbSNP (classic) | rs712830 |
| ClinGen | rs712830 |
| ebi | rs712830 |
| HLI | rs712830 |
| Exac | rs712830 |
| Gnomad | rs712830 |
| Varsome | rs712830 |
| LitVar | rs712830 |
| Map | rs712830 |
| PheGenI | rs712830 |
| Biobank | rs712830 |
| 1000 genomes | rs712830 |
| hgdp | rs712830 |
| ensembl | rs712830 |
| geneview | rs712830 |
| scholar | rs712830 |
| rs712830 | |
| pharmgkb | rs712830 |
| gwascentral | rs712830 |
| openSNP | rs712830 |
| 23andMe | rs712830 |
| SNPshot | rs712830 |
| SNPdbe | rs712830 |
| MSV3d | rs712830 |
| GWAS Ctlg | rs712830 |
| GMAF | 0.1111 |
| Max Magnitude | 0 |
[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.
| ClinVar | |
|---|---|
| Risk | rs712830(C;C) |
| Alt | rs712830(C;C) |
| Reference | Rs712830(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Lung cancer |
| Variation | info |
| Gene | EGFR |
| CLNDBN | Lung cancer |
| Reversed | 0 |
| HGVS | NC_000007.13:g.55086780A>C |
| CLNSRC | |
| CLNACC | RCV000262345.1, |
[PMID 30011810] The Association between Epidermal Growth Factor Receptor (EGFR) Gene Polymorphisms and Lung Cancer Risk.
