rs2072454
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2072454(C;T) |
Make rs2072454(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 55146655 |
Gene | EGFR |
is a | snp |
is | mentioned by |
dbSNP | rs2072454 |
dbSNP (classic) | rs2072454 |
ClinGen | rs2072454 |
ebi | rs2072454 |
HLI | rs2072454 |
Exac | rs2072454 |
Gnomad | rs2072454 |
Varsome | rs2072454 |
LitVar | rs2072454 |
Map | rs2072454 |
PheGenI | rs2072454 |
Biobank | rs2072454 |
1000 genomes | rs2072454 |
hgdp | rs2072454 |
ensembl | rs2072454 |
geneview | rs2072454 |
scholar | rs2072454 |
rs2072454 | |
pharmgkb | rs2072454 |
gwascentral | rs2072454 |
openSNP | rs2072454 |
23andMe | rs2072454 |
SNPshot | rs2072454 |
SNPdbe | rs2072454 |
MSV3d | rs2072454 |
GWAS Ctlg | rs2072454 |
GMAF | 0.4545 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 22552271] Integrated effect of EGFR and PAR-1 signaling crosstalk on airway hyperresponsiveness
[PMID 17598910] Interactions among genes in the ErbB-Neuregulin signalling network are associated with increased susceptibility to schizophrenia.
[PMID 17956637] Polymorphisms in the epidermal growth factor receptor gene and the risk of primary lung cancer: a case-control study.
[PMID 25511740] Identification of epidermal growth factor receptor (EGFR) genetic variants that modify risk for head and neck squamous cell carcinoma
ClinVar | |
---|---|
Risk | rs2072454(T;T) |
Alt | rs2072454(T;T) |
Reference | Rs2072454(C;C) |
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.55214348C>T |
CLNSRC | |
CLNACC | RCV000253696.1, RCV000324154.1, |
[PMID 30011810] The Association between Epidermal Growth Factor Receptor (EGFR) Gene Polymorphisms and Lung Cancer Risk.