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rs2227983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2227983(A;A)
Make rs2227983(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position55161562
GeneEGFR
is asnp
is mentioned by
dbSNPrs2227983
ebirs2227983
HLIrs2227983
Exacrs2227983
Varsomers2227983
Maprs2227983
PheGenIrs2227983
hapmaprs2227983
1000 genomesrs2227983
hgdprs2227983
ensemblrs2227983
gopubmedrs2227983
geneviewrs2227983
scholarrs2227983
googlers2227983
pharmgkbrs2227983
gwascentralrs2227983
openSNPrs2227983
23andMers2227983
23andMe allrs2227983
SNP Nexus

SNPshotrs2227983
SNPdbers2227983
MSV3drs2227983
GWAS Ctlgrs2227983
Merged fromRs11543848
GMAF0.2989
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 17875215OA-icon.png] 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 17956637OA-icon.png] Polymorphisms in the epidermal growth factor receptor gene and the risk of primary lung cancer: a case-control study.

[PMID 19102716OA-icon.png] EGFR-targeted therapies in lung cancer: predictors of response and toxicity.

[PMID 19190167OA-icon.png] A two-stage case-control study of EGFR polymorphisms and breast cancer risk.

[PMID 19372140OA-icon.png] EGFR pathway polymorphisms and bladder cancer susceptibility and prognosis.

[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.

[PMID 19636371OA-icon.png] Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 protein expression, and breast cancer risk in Tunisia.

[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

[PMID 21791631OA-icon.png] 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

GET Evidence
EGFR-R521K
aa_change Arg521Lys
aa_change_short R521K
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.203476
summary This variant improves tretability and reduces risk to develop CRC colorectal cancer.



[PMID 21604062] Association of rheumatoid arthritis risk with EGFR genetic polymorphisms in Taiwan's Han Chinese population.


ClinVar
Risk rs2227983(A;A)
Alt rs2227983(A;A)
Reference rs2227983(G;G)
Significance Untested
Disease not specified
Variation info
Gene EGFR
CLNDBN not specified
Reversed 0
HGVS NC_000007.13:g.55229255G>A
CLNSRC ClinVar
CLNACC RCV000120690.1,



[PMID 24945674OA-icon.png] Genetic variants of EGF and VEGF predict prognosis of patients with advanced esophageal squamous cell carcinoma