{{Rsnum
|rsid=1801275
|Gene=IL4R
|Chromosome=16
|position=27363079
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.3453
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=IL4R
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 63.7 | 32.7 | 3.5
| HCB | 66.4 | 30.7 | 2.9
| JPT | 77.9 | 19.5 | 2.7
| YRI | 1.4 | 34.5 | 64.1
| ASW | 0.0 | 0.0 | 0.0
| CHB | 66.4 | 30.7 | 2.9
| CHD | 68.8 | 26.6 | 4.6
| GIH | 55.4 | 36.6 | 7.9
| LWK | 0.9 | 26.4 | 72.7
| MEX | 57.1 | 37.5 | 5.4
| MKK | 8.6 | 41.7 | 49.7
| TSI | 68.6 | 31.4 | 0.0
| HapMapRevision=28
}}{{omim
|desc=ATOPY, SUSCEPTIBILITY TO
|id=147781
|rsnum=1801275
|variant=0001
}}

{{ neighbor
| rsid = 1805015
| distance = 220
}}
{{ neighbor
| rsid = 1805016
| distance = 527
}}

{{PMID Auto
|PMID=19515749
|Title=Favorable impact of the interleukin-4 receptor allelic variant I75 on the survival of diffuse large B-cell lymphoma patients demonstrated in a large prospective clinical trial
}}

{{PMID Auto
|PMID=19956098
|Title=Association analysis of SNPs in the IL4R locus with type I diabetes
|OA=1
}}

{{PMID Auto
|PMID=21196282
|Title=Single nucleotide polymorphisms in IL-4Ra, IL-13 and STAT6 genes occurs in brain glioma
}}

{{PMID Auto
|PMID=21734400
|Title=Attempted Replication of 50 Reported Asthma Risk Genes Identifies a SNP in RAD50 as Associated with Childhood Atopic Asthma
}}

{{PMID Auto
|PMID=22119518
|Title=Interleukin-4 receptor alpha polymorphisms in autoimmune myasthenia gravis in a Caucasian population
}}

{{PMID Auto GWAS
|PMID=22075330
|Trait=None
|Title=A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.
|RiskAllele=G
|Pval=1E-7
|OR=0.0500
|ORtxt=None
|OA=1
}}

{{ClinVar
|rsid=1801275
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=27374400
|CHROM=16
|GMAF=0.3452
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x05016800000017051f130101
|GENEINFO=IL4R:3566
|GENE_NAME=IL4R
|GENE_ID=3566
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.27374400A>G
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.6547; 0.3453
|CLNACC=RCV000015775.1
|CLNDBN=Atopy, susceptibility to
|CLNDSDB=MedGen
|CLNDSDBID=C1840254
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=147781.0001
|COMMON=1
|Disease=Atopy
}}

{{PMID Auto
|PMID=15660293
|Title=No evidence of association or interaction between the IL4RA, IL4, and IL13 genes in type 1 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=15726497
|Title=Gene-environment interaction effects on the development of immune responses in the 1st year of life.
|OA=1
}}

{{PMID Auto
|PMID=16024651
|Title=Polymorphisms associated with asthma are inversely related to glioblastoma multiforme.
|OA=1
}}

{{PMID Auto
|PMID=16759385
|Title=Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA).
|OA=1
}}

{{PMID Auto
|PMID=16842617
|Title=Interleukin gene polymorphisms and breast cancer: a case control study and systematic literature review.
|OA=1
}}

{{PMID Auto
|PMID=17083349
|Title=Interaction between variants in the interleukin-4 receptor alpha and interleukin-9 receptor genes in childhood wheezing: evidence from a birth cohort study.
}}

{{PMID Auto
|PMID=17705862
|Title=Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.
|OA=1
}}

{{PMID Auto
|PMID=17940599
|Title=Assembly of inflammation-related genes for pathway-focused genetic analysis.
|OA=1
}}

{{PMID Auto
|PMID=18006935
|Title=An international case-control study of interleukin-4Ralpha, interleukin-13, and cyclooxygenase-2 polymorphisms and glioblastoma risk.
}}

{{PMID Auto
|PMID=18625055
|Title=Lack of association or interactions between the IL-4, IL-4Ralpha and IL-13 genes, and rheumatoid arthritis.
|OA=1
}}

{{PMID Auto
|PMID=18781131
|Title=Interleukin and interleukin receptor gene polymorphisms and susceptibility to melanoma.
|OA=1
}}

{{PMID Auto
|PMID=18936436
|Title=Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
|OA=1
}}

{{PMID Auto
|PMID=19131662
|Title=A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
|OA=1
}}

{{PMID Auto
|PMID=19263529
|Title=Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
|OA=1
}}

{{PMID Auto
|PMID=19330901
|Title=Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
|OA=1
}}

{{PMID Auto
|PMID=19356949
|Title=Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.
|OA=1
}}

{{PMID Auto
|PMID=19559392
|Title=A candidate gene association study of 77 polymorphisms in migraine.
|OA=1
}}

{{PMID Auto
|PMID=19956101
|Title=Overview of the Rapid Response data.
|OA=1
}}

{{PMID Auto
|PMID=19956109
|Title=The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.
|OA=1
}}

{{PMID Auto
|PMID=20298583
|Title=Association of IL-4RA single nucleotide polymorphisms, HLA-DR and HLA-DQ in children with Alternaria-sensitive moderate-severe asthma.
|OA=1
}}

{{PMID Auto
|PMID=20811626
|Title=Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.
|OA=1
}}

{{PMID Auto
|PMID=22045834
|Title=Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression.
}}

{{PMID Auto
|PMID=22369735
|Title=Polymorphisms of TREH, IL4R and CCDC26 genes associated with risk of glioma.
}}

{{GET Evidence
|gene=IL4R
|aa_change=Gln576Arg
|aa_change_short=Q576R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1801275
|overall_frequency_n=3916
|overall_frequency_d=10758
|overall_frequency=0.364008
|n_genomes=30
|n_genomes_annotated=0
|n_haplomes=48
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|in_omim=Y
|nblosum100=0
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23480403
|Title=Case-control study of eczema in relation to IL4Rα genetic polymorphisms in Japanese women: the Kyushu Okinawa Maternal and Child Health Study
}}

{{PMID Auto
|PMID=23299779
|Title=Interleukin-10 gene polymorphisms are associated with freedom from treatment failure for patients with Hodgkin lymphoma
|OA=1
}}

{{PMID Auto
|PMID=23924473
|Title=Association between the polymorphisms of interleukin-4, the interleukin-4 receptor gene and asthma
}}

{{PMID Auto
|PMID=23979976
|Title=Association of the interleukin-4Rα rs1801275 and rs1805015 polymorphisms with glioma risk
}}

{{PMID Auto
|PMID=23996684
|Title=Cytokine and cytokine receptor genes of the adaptive immune response are differentially associated with breast cancer risk in American women of African and European ancestry
}}

{{PMID Auto
|PMID=22902050
|Title=Using haplotype analysis to elucidate significant associations between genes and Hodgkin lymphoma.
|OA=1
}}

{{PMID Auto
|PMID=23395224
|Title=Association between polymorphisms in interleukin-4Ralpha and interleukin-13 and glioma risk: a meta-analysis.
}}

{{PMID Auto
|PMID=25110223
|Title=rs1801275 Interleukin-4 receptor alpha polymorphism in familial hypercholesterolemia
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}