Have questions? Visit https://www.reddit.com/r/SNPedia

rs1801275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
Make rs1801275(A;G)
Make rs1801275(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position27363079
GeneIL4R
is asnp
is mentioned by
dbSNPrs1801275
ebirs1801275
HLIrs1801275
Exacrs1801275
Varsomers1801275
Maprs1801275
PheGenIrs1801275
hapmaprs1801275
1000 genomesrs1801275
hgdprs1801275
ensemblrs1801275
gopubmedrs1801275
geneviewrs1801275
scholarrs1801275
googlers1801275
pharmgkbrs1801275
gwascentralrs1801275
openSNPrs1801275
23andMers1801275
23andMe allrs1801275
SNP Nexus

SNPshotrs1801275
SNPdbers1801275
MSV3drs1801275
GWAS Ctlgrs1801275
GMAF0.3453
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM147781
DescATOPY, SUSCEPTIBILITY TO
Variant0001
Relatedalso
Neighborrs1805015
Distance220
Neighborrs1805016
Distance527


[PMID 19515749] 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 19956098OA-icon.png] Association analysis of SNPs in the IL4R locus with type I diabetes


[PMID 21196282] Single nucleotide polymorphisms in IL-4Ra, IL-13 and STAT6 genes occurs in brain glioma


[PMID 21734400] Attempted Replication of 50 Reported Asthma Risk Genes Identifies a SNP in RAD50 as Associated with Childhood Atopic Asthma


[PMID 22119518] Interleukin-4 receptor alpha polymorphisms in autoimmune myasthenia gravis in a Caucasian population

GWAS snp
PMID [PMID 22075330OA-icon.png]
Trait
Title A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.
Risk Allele G
P-val 1E-7
Odds Ratio 0.0500 None


ClinVar
Risk rs1801275(G;G)
Alt rs1801275(G;G)
Reference rs1801275(A;A)
Significance Other
Disease Atopy
Variation info
Gene IL4R
CLNDBN Atopy, susceptibility to
Reversed 0
HGVS NC_000016.9:g.27374400A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015775.3,



[PMID 15660293OA-icon.png] No evidence of association or interaction between the IL4RA, IL4, and IL13 genes in type 1 diabetes.


[PMID 15726497OA-icon.png] Gene-environment interaction effects on the development of immune responses in the 1st year of life.


[PMID 16024651OA-icon.png] Polymorphisms associated with asthma are inversely related to glioblastoma multiforme.


[PMID 16759385OA-icon.png] Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA).


[PMID 16842617OA-icon.png] Interleukin gene polymorphisms and breast cancer: a case control study and systematic literature review.


[PMID 17083349] Interaction between variants in the interleukin-4 receptor alpha and interleukin-9 receptor genes in childhood wheezing: evidence from a birth cohort study.


[PMID 17705862OA-icon.png] Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.


[PMID 17940599OA-icon.png] Assembly of inflammation-related genes for pathway-focused genetic analysis.


[PMID 18006935] An international case-control study of interleukin-4Ralpha, interleukin-13, and cyclooxygenase-2 polymorphisms and glioblastoma risk.


[PMID 18625055OA-icon.png] Lack of association or interactions between the IL-4, IL-4Ralpha and IL-13 genes, and rheumatoid arthritis.


[PMID 18781131OA-icon.png] Interleukin and interleukin receptor gene polymorphisms and susceptibility to melanoma.


[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.


[PMID 19263529OA-icon.png] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.


[PMID 19330901OA-icon.png] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.


[PMID 19356949OA-icon.png] Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.


[PMID 19559392OA-icon.png] A candidate gene association study of 77 polymorphisms in migraine.


[PMID 19956101OA-icon.png] Overview of the Rapid Response data.


[PMID 19956109OA-icon.png] The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.


[PMID 20298583OA-icon.png] Association of IL-4RA single nucleotide polymorphisms, HLA-DR and HLA-DQ in children with Alternaria-sensitive moderate-severe asthma.


[PMID 20811626OA-icon.png] Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.


[PMID 22045834] Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression.


[PMID 22369735] Polymorphisms of TREH, IL4R and CCDC26 genes associated with risk of glioma.


GET Evidence
IL4R-Q576R
aa_change Gln576Arg
aa_change_short Q576R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.364008
summary



[PMID 23480403] Case-control study of eczema in relation to IL4Rα genetic polymorphisms in Japanese women: the Kyushu Okinawa Maternal and Child Health Study


[PMID 23299779OA-icon.png] Interleukin-10 gene polymorphisms are associated with freedom from treatment failure for patients with Hodgkin lymphoma


[PMID 23924473] Association between the polymorphisms of interleukin-4, the interleukin-4 receptor gene and asthma


[PMID 23979976] Association of the interleukin-4Rα rs1801275 and rs1805015 polymorphisms with glioma risk


[PMID 23996684OA-icon.png] 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 22902050OA-icon.png] Using haplotype analysis to elucidate significant associations between genes and Hodgkin lymphoma.


[PMID 23395224] Association between polymorphisms in interleukin-4Ralpha and interleukin-13 and glioma risk: a meta-analysis.


[PMID 25110223] rs1801275 Interleukin-4 receptor alpha polymorphism in familial hypercholesterolemia


[PMID 25785117OA-icon.png] Associations between polymorphisms in the IL-4 and IL-4 receptor genes and urinary carcinomas: a meta-analysis


[PMID 26391153] Polymorphisms in host immune response associated genes and risk of nasopharyngeal carcinoma development in Portugal