{{Rsnum
|rsid=2227983
|Gene=EGFR
|Chromosome=7
|position=55161562
|Orientation=plus
|GMAF=0.2989
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=EGFR
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 8.0 | 40.2 | 51.8
| HCB | 22.2 | 54.8 | 23.0
| JPT | 35.1 | 53.2 | 11.7
| YRI | 0.0 | 11.7 | 88.3
| ASW | 1.8 | 17.9 | 80.4
| CHB | 22.2 | 54.8 | 23.0
| CHD | 25.7 | 53.2 | 21.1
| GIH | 11.0 | 52.0 | 37.0
| LWK | 0.0 | 6.5 | 93.5
| MEX | 10.3 | 39.7 | 50.0
| MKK | 0.0 | 9.7 | 90.3
| TSI | 5.9 | 36.3 | 57.8
| HapMapRevision=28
}}{{PharmGKB
|RSID=rs2227983
|Name_s=EGFR:1562G>A, R497K, R521K
|Gene_s=EGFR
|Feature=Exon/NonSyn
|Evidence=PubMed ID:19860576
|Annotation=Risk or phenotype-associated allele: none. Phenotype: No association with thyroid cancer, or clinicopathological characteristics such as thyroid-stimulating hormone level, off-thyroxin, serum thyroglobulin, tumor histology, metastasis, tumor status, tumor stage, and survival. Study size: 106 cases and 302 controls. Study population/ethnicity: Thyroid cancer patients and healthy individuals. Significance metric(s): not available in abstract. Type of association: CO; GN.
|Drugs=
|Drug Classes=
|Diseases=Thyroid Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA165291589
}}

{{PharmGKB
|RSID=rs2227983
|Name_s=EGFR:R497K
|Gene_s=EGFR
|Feature=Exon/NonSyn
|Evidence=PubMed ID:12428072; PubMed ID:16788380; PubMed ID:17112774; PubMed ID:17375033; PubMed ID:17575224; PubMed ID:17597605
|Annotation=May influence EGFR function, clinical relevance uncertain.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145048
}}

{{PharmGKB
|RSID=rs2227983
|Name_s=EGFR:R497K
|Gene_s=EGFR
|Feature=Exon/NonSyn
|Evidence=PubMed ID:18006781
|Annotation=A combination of EGFR:-216G>T and EGFR:R497K polymorphisms was weakly associated with drug response in NCI-60 cell lines.
|Drugs=erlotinib
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA162372817
}}

{{PharmGKB
|RSID=rs2227983
|Name_s=EGFR:1562G>A, R497K, R521K
|Gene_s=EGFR
|Feature=Exon/NonSyn
|Evidence=PubMed ID:18664296
|Annotation=Risk or phenotype-associated allele: A (Lys) allele. Phenotype: Association with increased risk of acute coronary syndrome. Study size: 191 cases and 210 controls. Study population/ethnicity: Chinese acute coronary syndrome patients and age- and sex-matched controls. Significance metric(s): OR = 1.49; p = 0.006. Type of association: GN; CO.
|Drugs=
|Drug Classes=
|Diseases=Acute coronary syndrome
|Curation Level=Curated
|PharmGKB Accession ID=PA165291590
}}

{{PMID|17875215|OA=1
}} 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|OA=1
}} Polymorphisms in the epidermal growth factor receptor gene and the risk of primary lung cancer: a case-control study.

{{PMID|19102716|OA=1
}} EGFR-targeted therapies in lung cancer: predictors of response and toxicity.

{{PMID|19190167|OA=1
}} A two-stage case-control study of EGFR polymorphisms and breast cancer risk.

{{PMID|19372140|OA=1
}} EGFR pathway polymorphisms and bladder cancer susceptibility and prognosis.

{{PMID|19379518|OA=1
}} Development of a fingerprinting panel using medically relevant polymorphisms.

{{PMID|19636371|OA=1
}} 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|OA=1
}} Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

{{PMID|21791631|OA=1
}} Pharmacogenetic angiogenesis profiling for first-line Bevacizumab plus oxaliplatin-based chemotherapy in patients with metastatic colorectal cancer.

{{PMID Auto
|PMID=22552271
|Title=Integrated effect of EGFR and PAR-1 signaling crosstalk on airway hyperresponsiveness
}}
{{GET Evidence
|gene=EGFR
|aa_change=Arg521Lys
|aa_change_short=R521K
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2227983
|overall_frequency_n=2189
|overall_frequency_d=10758
|overall_frequency=0.203476
|n_genomes=13
|n_genomes_annotated=0
|n_haplomes=15
|n_articles=4
|n_articles_annotated=4
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=3
|qualityscore_treatability=2
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_pharmgkb=Y
|genetests_testable=Y
|nblosum100=-3
|autoscore=3
|webscore=N
|n_web_uneval=10
|summary_short=This variant improves tretability and reduces risk to develop CRC colorectal cancer. 
}}

{{PMID Auto
|PMID=21604062
|Title=Association of rheumatoid arthritis risk with EGFR genetic polymorphisms in Taiwan's Han Chinese population.
}}

{{on chip | 23andMe v3}}