{{Rsnum
|rsid=1494555
|Gene=IL7R
|Chromosome=5
|position=35871088
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.326
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=IL7R
}}

[[rs1494555]], also known as Ile138Val or Val138Ile, is a SNP in the fourth exon of the [[IL7R]] interleukin 7 receptor gene.

See the discussion for [[rs1494558]] for this SNP's unclear association with a form of immunodeficiency.

{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 8.0 | 41.6 | 50.4
| HCB | 24.3 | 53.7 | 22.1
| JPT | 25.9 | 51.8 | 22.3
| YRI | 1.4 | 7.5 | 91.2
| ASW | 3.5 | 28.1 | 68.4
| CHB | 24.3 | 53.7 | 22.1
| CHD | 25.5 | 49.1 | 25.5
| GIH | 24.8 | 47.5 | 27.7
| LWK | 1.8 | 14.5 | 83.6
| MEX | 15.8 | 68.4 | 15.8
| MKK | 3.2 | 31.2 | 65.6
| TSI | 7.8 | 50.0 | 42.2
| HapMapRevision=28
}}

{{omim
|desc=SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
|id=146661
|rsnum=1494555
|variant=0002
}}

{{PMID Auto
|PMID=21326139
|Title=Prognostic significance of interleukin-7 receptor-? gene polymorphisms in allogeneic stem-cell transplantation: a confirmatory study
}}

{{ClinVar
|rsid=1494555
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=35871190
|CHROM=5
|GMAF=0.326
|dbSNPBuildID=88
|SSR=0
|SAO=1
|VP=0x05036800000015051f110101
|GENEINFO=IL7R:3575
|GENE_NAME=IL7R
|GENE_ID=3575
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.35871190G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=146661.0002
|CLNSIG=5
|CLNCUI=C1837028
|CLNDBN=Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
|Disease=Severe combined immunodeficiency
|CLNACC=RCV000015965.24
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.326; 0.674
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C1837028:608971
|COMMON=1
}}

{{PMID Auto
|PMID=16449530
|Title=Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma.
|OA=1
}}

{{PMID Auto
|PMID=17327408
|Title=Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.
|OA=1
}}

{{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=18633131
|Title=Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era.
|OA=1
}}

{{PMID Auto
|PMID=18687755
|Title=Genetic variants in T helper cell type 1, 2 and 3 pathways and gastric cancer risk in a Polish population.
|OA=1
}}

{{PMID Auto
|PMID=19066394
|Title=Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma.
|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=20952689
|Title=Cytokine polymorphisms in Th1/Th2 pathway genes, body mass index, and risk of non-Hodgkin lymphoma.
|OA=1
}}

{{PMID Auto
|PMID=21244681
|Title=Thymic stromal lymphopoietin (TSLP) is associated with allergic rhinitis in children with asthma.
|OA=1
}}

{{GET Evidence
|gene=IL7R
|aa_change=Val138Ile
|aa_change_short=V138I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1494555
|overall_frequency_n=8017
|overall_frequency_d=10758
|overall_frequency=0.745213
|n_genomes=51
|n_genomes_annotated=0
|n_haplomes=85
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-4
|autoscore=2
|n_web_uneval=8
}}

{{PMID Auto
|PMID=23692589
|Title=Polymorphism in the interleukin-7 receptor-alpha and outcome after allogeneic hematopoietic cell transplantation with matched unrelated donor.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}