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rs1494555

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 0
Make rs1494555(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position35871088
GeneIL7R
is asnp
is mentioned by
dbSNPrs1494555
ebirs1494555
HLIrs1494555
Exacrs1494555
Varsomers1494555
Maprs1494555
PheGenIrs1494555
hapmaprs1494555
1000 genomesrs1494555
hgdprs1494555
ensemblrs1494555
gopubmedrs1494555
geneviewrs1494555
scholarrs1494555
googlers1494555
pharmgkbrs1494555
gwascentralrs1494555
openSNPrs1494555
23andMers1494555
23andMe allrs1494555
SNP Nexus

SNPshotrs1494555
SNPdbers1494555
MSV3drs1494555
GWAS Ctlgrs1494555
GMAF0.326
Max Magnitude0

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.

? (C;C) (C;T) (T;T) 28
OMIM146661
DescSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
Variant0002
Relatedalso


[PMID 21326139] Prognostic significance of interleukin-7 receptor-? gene polymorphisms in allogeneic stem-cell transplantation: a confirmatory study


ClinVar
Risk rs1494555(T;T)
Alt rs1494555(T;T)
Reference rs1494555(C;C)
Significance Pathogenic
Disease Severe combined immunodeficiency not specified
Variation info
Gene IL7R
CLNDBN Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive not specified
Reversed 1
HGVS NC_000005.9:g.35871190G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015965.26, RCV000121214.1,



[PMID 16449530OA-icon.png] Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma.


[PMID 17327408OA-icon.png] Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.


[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 18633131OA-icon.png] 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.


[PMID 18687755OA-icon.png] Genetic variants in T helper cell type 1, 2 and 3 pathways and gastric cancer risk in a Polish population.


[PMID 19066394OA-icon.png] Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma.


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


[PMID 20952689OA-icon.png] Cytokine polymorphisms in Th1/Th2 pathway genes, body mass index, and risk of non-Hodgkin lymphoma.


[PMID 21244681OA-icon.png] Thymic stromal lymphopoietin (TSLP) is associated with allergic rhinitis in children with asthma.


GET Evidence
IL7R-V138I
aa_change Val138Ile
aa_change_short V138I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.745213
summary



[PMID 23692589OA-icon.png] Polymorphism in the interleukin-7 receptor-alpha and outcome after allogeneic hematopoietic cell transplantation with matched unrelated donor.