IL4R, interleukin 4 receptor, 3566

N. diseases: 242; N. variants: 36
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801275
rs1801275
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C1840254
Disease:
ATOPY, SUSCEPTIBILITY TO (finding)
G 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1805010
rs1805010
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C1840084
Disease:
ACQUIRED IMMUNODEFICIENCY SYNDROME, SLOW PROGRESSION TO
G 0.700 CausalMutation CLINVAR
dbSNP: rs555743307
rs555743307
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C1827849
Disease:
IgE-mediated allergic asthma
0.040 GeneticVariation BEFREE Ile50Val, which was previously reported to be associated with atopic asthma in Japan, showed no association with AD in our group. 10809862 2000
dbSNP: rs555743307
rs555743307
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C0155877
Disease:
Allergic asthma
0.040 GeneticVariation BEFREE Ile50Val, which was previously reported to be associated with atopic asthma in Japan, showed no association with AD in our group. 10809862 2000
dbSNP: rs555743307
rs555743307
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C1276072
Disease:
Adult atopic dermatitis
0.010 GeneticVariation BEFREE Ile50Val, which was previously reported to be associated with atopic asthma in Japan, showed no association with AD in our group. 10809862 2000
dbSNP: rs1805011
rs1805011
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C1276072
Disease:
Adult atopic dermatitis
0.010 GeneticVariation BEFREE Glu375Ala and Cys406Arg also showed no association with AD. 10809862 2000
dbSNP: rs555743307
rs555743307
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C0004096
Disease:
Asthma
0.090 GeneticVariation BEFREE I50V variants were not significantly associated with asthma. 17586032 2007
dbSNP: rs1805010
rs1805010
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C0740457
Disease:
Malignant neoplasm of kidney
0.010 GeneticVariation BEFREE I75V G allele carriers were associated with a decreased risk of renal cancer (dominant model = 0.71, 95%CI = 0.57-0.89, heterozygote comparison: OR = 0.69, 95%CI = 0.55-0.87). 23464436 2012
dbSNP: rs1805010
rs1805010
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C1378703
Disease:
Renal carcinoma
0.010 GeneticVariation BEFREE I75V G allele carriers were associated with a decreased risk of renal cancer (dominant model = 0.71, 95%CI = 0.57-0.89, heterozygote comparison: OR = 0.69, 95%CI = 0.55-0.87). 23464436 2012
dbSNP: rs1805010
rs1805010
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Our results suggest that Q576R, I75V and S503P may be associated with a decreased cancer risk for certain types of cancers and in some specific ethnic groups. 23464436 2012
dbSNP: rs1805010
rs1805010
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Our results suggest that Q576R, I75V and S503P may be associated with a decreased cancer risk for certain types of cancers and in some specific ethnic groups. 23464436 2012
dbSNP: rs1805015
rs1805015
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE S503P C allele carriers were also associated with a decreased cancer risk in Asians (CC VS TT: OR = 0.29, 95%CI = 0.08-0.99). 23464436 2012
dbSNP: rs1805015
rs1805015
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C0006826
Disease:
Malignant Neoplasms
0.020 GeneticVariation BEFREE S503P C allele carriers were also associated with a decreased cancer risk in Asians (CC VS TT: OR = 0.29, 95%CI = 0.08-0.99). 23464436 2012
dbSNP: rs1801275
rs1801275
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa
0.010 GeneticVariation BEFREE rs1801275 Interleukin-4 receptor alpha polymorphism in familial hypercholesterolemia. 25110223 2015
dbSNP: rs1801275
rs1801275
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
0.010 GeneticVariation BEFREE rs1801275 Interleukin-4 receptor alpha polymorphism in familial hypercholesterolemia. 25110223 2015
dbSNP: rs1805015
rs1805015
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C0024530
Disease:
Malaria
0.010 GeneticVariation BEFREE A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800750), IL-4R (rs1805015), NOS (rs8078340), CD40LG (rs1126535), and LUC7L (rs1211375) was significantly associated with the prevalence of malaria (POR: 1.822, 95% CI: 0.998-3.324). 26448013 2015
dbSNP: rs1805015
rs1805015
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C0085129
Disease:
Bronchial Hyperreactivity
0.010 GeneticVariation BEFREE A significant gene-gene interaction between S478P in IL4RA and the -1111 promoter variation in IL13, previously shown to be associated with BHR (P=.003), was detected. 11709756 2002
dbSNP: rs769790595
rs769790595
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C0004096
Disease:
Asthma
0.040 GeneticVariation BEFREE A significant interaction was found between R130Q in the IL-13 gene (IL13) and I50V in the IL-4 receptor alpha gene (IL4RA) on the risk of asthma, with a cross-validation consistency of 10 of 10 and a prediction error of 33.7% (P = .014). 16387595 2006
dbSNP: rs555743307
rs555743307
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C0004096
Disease:
Asthma
0.090 GeneticVariation BEFREE A significant interaction was found between R130Q in the IL-13 gene (IL13) and I50V in the IL-4 receptor alpha gene (IL4RA) on the risk of asthma, with a cross-validation consistency of 10 of 10 and a prediction error of 33.7% (P = .014). 16387595 2006
dbSNP: rs555743307
rs555743307
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.060 GeneticVariation BEFREE A single-nucleotide polymorphism (SNP), I50V, in the coding region of the human IL-4 receptor (IL-4R) is associated with rapid development of erosive disease in RA. 21294892 2011
dbSNP: rs1805015
rs1805015
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE After a comprehensive analysis, no significant evidence was revealed for the association between four IL-4R polymorphisms (rs1801275, rs1805010, rs1805015, rs2057768) and cancer susceptibility in the overall population, as well as the subgroup analysis stratified by ethnicity, cancer type, the genotyping method or the source of control. 31031864 2019
dbSNP: rs1805015
rs1805015
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C0006826
Disease:
Malignant Neoplasms
0.020 GeneticVariation BEFREE After a comprehensive analysis, no significant evidence was revealed for the association between four IL-4R polymorphisms (rs1801275, rs1805010, rs1805015, rs2057768) and cancer susceptibility in the overall population, as well as the subgroup analysis stratified by ethnicity, cancer type, the genotyping method or the source of control. 31031864 2019
dbSNP: rs775147602
rs775147602
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE After stratification by atopic status, the heterozygous AG genotype of LT-alpha (A252G) was found to increase risk of asthma in atopic population [odds ratio (OR) = 2.00, 95% CI 1.09-3.67, p = 0.024]. 17536219 2007
dbSNP: rs1801275
rs1801275
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C2607914
Disease:
Allergic rhinitis (disorder)
0.020 GeneticVariation BEFREE Allele frequencies of one IL-4R variant (rs1801275) and three SNPs of IL-4 (rs2243248, rs2243250, and rs2070874) were investigated in 98 patients with AR, compared to a group of controls, using PCR sequence-specific-primers (PCR-SSP) method. 24075353 2014
dbSNP: rs1805010
rs1805010
Entrez Id: 3566
Gene Symbol: IL4R
IL4R
CUI: C0026896
Disease:
Myasthenia Gravis
0.020 GeneticVariation BEFREE Although the distribution of the S503P and Q576R polymorphisms did not differ significantly between the groups, the frequency of the GG rare homozygote genotype of the I75V polymorphism was significantly higher in patients with myasthenia gravis. 22119518 2012