rs1050171
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1050171(A;A) |
Make rs1050171(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 55181370 |
Gene | EGFR, EGFR-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs1050171 |
dbSNP (classic) | rs1050171 |
ClinGen | rs1050171 |
ebi | rs1050171 |
HLI | rs1050171 |
Exac | rs1050171 |
Gnomad | rs1050171 |
Varsome | rs1050171 |
LitVar | rs1050171 |
Map | rs1050171 |
PheGenI | rs1050171 |
Biobank | rs1050171 |
1000 genomes | rs1050171 |
hgdp | rs1050171 |
ensembl | rs1050171 |
geneview | rs1050171 |
scholar | rs1050171 |
rs1050171 | |
pharmgkb | rs1050171 |
gwascentral | rs1050171 |
openSNP | rs1050171 |
23andMe | rs1050171 |
SNPshot | rs1050171 |
SNPdbe | rs1050171 |
MSV3d | rs1050171 |
GWAS Ctlg | rs1050171 |
GMAF | 0.4183 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 23450128] Evaluation of phosphatidylinositol-3-kinase catalytic subunit (PIK3CA) and epidermal growth factor receptor (EGFR) gene mutations in pancreaticobiliary adenocarcinoma
[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 19563658] Molecular characterization of EGFR, PDGFRA and VEGFR2 in cervical adenosquamous carcinoma.
ClinVar | |
---|---|
Risk | rs1050171(A;A) |
Alt | rs1050171(A;A) |
Reference | Rs1050171(G;G) |
Significance | Probable-non-pathogenic |
Disease | not specified Lung cancer |
Variation | info |
Gene | EGFR EGFR-AS1 |
CLNDBN | not specified Lung cancer |
Reversed | 0 |
HGVS | NC_000007.13:g.55249063G>A |
CLNSRC | ClinVar |
CLNACC | RCV000038427.3, RCV000321080.1, |
[PMID 27895798] Exploring the impact of EGFR T790M neighboring SNPs on ARMS-based T790M mutation assay.
[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.