IL7R, interleukin 7 receptor, 3575

N. diseases: 231; N. variants: 41
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6897932
rs6897932
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.800 GeneticVariation GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
dbSNP: rs3194051
rs3194051
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C0009324
Disease:
Ulcerative Colitis 		G 0.800 GeneticVariation GWASDB Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. 21297633 2011
dbSNP: rs3194051
rs3194051
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C0009324
Disease:
Ulcerative Colitis 		G 0.800 GeneticVariation GWASCAT Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. 21297633 2011
dbSNP: rs6897932
rs6897932
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.800 GeneticVariation GWASDB Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
dbSNP: rs104893894
rs104893894
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C1837028
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		0.800 GeneticVariation UNIPROT A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. 11023514 2000
dbSNP: rs104893894
rs104893894
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C1837028
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		0.800 GeneticVariation UNIPROT Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. 9843216 1998
dbSNP: rs104893894
rs104893894
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C1837028
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		T 0.800 CausalMutation CLINVAR
dbSNP: rs11567694
rs11567694
Entrez Id: 3575;105374724
Gene Symbol: IL7R;LOC105374724
IL7R;LOC105374724
CUI: C0035242
Disease:
Respiratory Tract Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3822733
rs3822733
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6881706
rs6881706
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C0013595
Disease:
Eczema 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10624573
rs10624573
Entrez Id: 3575;105374724
Gene Symbol: IL7R;LOC105374724
IL7R;LOC105374724
CUI: C2985280
Disease:
Blood Protein Measurement 		CAGAAG 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs6451229
rs6451229
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs6881270
rs6881270
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C1527304
Disease:
Allergic Reaction 		0.700 GeneticVariation GWASCAT A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases. 29785011 2018
dbSNP: rs6881270
rs6881270
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C0004096
Disease:
Asthma 		0.700 GeneticVariation GWASCAT A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases. 29785011 2018
dbSNP: rs7717955
rs7717955
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C2607914
Disease:
Allergic rhinitis (disorder) 		C 0.700 GeneticVariation GWASCAT Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis. 30013184 2018
dbSNP: rs7717955
rs7717955
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C1527304
Disease:
Allergic Reaction 		C 0.700 GeneticVariation GWASCAT Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. 29083406 2017
dbSNP: rs193922641
rs193922641
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C1837028
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		A 0.700 CausalMutation CLINVAR A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis. 27833609 2016
dbSNP: rs199641706
rs199641706
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C1837028
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		A 0.700 CausalMutation CLINVAR A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis. 27833609 2016
dbSNP: rs200803157
rs200803157
Entrez Id: 3575;105374724
Gene Symbol: IL7R;LOC105374724
IL7R;LOC105374724
CUI: C1837028
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		A 0.700 GeneticVariation CLINVAR Hypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis. 26123418 2015
dbSNP: rs193922641
rs193922641
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C1837028
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		A 0.700 CausalMutation CLINVAR Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias. 24759676 2014
dbSNP: rs869312857
rs869312857
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C1837028
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		CA 0.700 CausalMutation CLINVAR Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. 25046553 2014
dbSNP: rs6881706
rs6881706
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C0026769
Disease:
Multiple Sclerosis 		C 0.700 GeneticVariation GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602 2013
dbSNP: rs1057519759
rs1057519759
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C1855472
Disease:
Acute lymphoblastic leukemia with lymphomatous features 		T 0.700 GeneticVariation CLINVAR Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia. 22897847 2012
dbSNP: rs1057519759
rs1057519759
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
CUI: C1855472
Disease:
Acute lymphoblastic leukemia with lymphomatous features 		T 0.700 GeneticVariation CLINVAR Targeting JAK1/2 and mTOR in murine xenograft models of Ph-like acute lymphoblastic leukemia. 22955920 2012
dbSNP: rs200803157
rs200803157
Entrez Id: 3575;105374724
Gene Symbol: IL7R;LOC105374724
IL7R;LOC105374724
CUI: C1837028
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		A 0.700 GeneticVariation CLINVAR Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 21664875 2011