rs1494555
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 0 | |
| (T;T) | 0 | benign polymorphism |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 35871088 |
| Gene | IL7R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1494555 |
| dbSNP (classic) | rs1494555 |
| ClinGen | rs1494555 |
| ebi | rs1494555 |
| HLI | rs1494555 |
| Exac | rs1494555 |
| Gnomad | rs1494555 |
| Varsome | rs1494555 |
| LitVar | rs1494555 |
| Map | rs1494555 |
| PheGenI | rs1494555 |
| Biobank | rs1494555 |
| 1000 genomes | rs1494555 |
| hgdp | rs1494555 |
| ensembl | rs1494555 |
| geneview | rs1494555 |
| scholar | rs1494555 |
| rs1494555 | |
| pharmgkb | rs1494555 |
| gwascentral | rs1494555 |
| openSNP | rs1494555 |
| 23andMe | rs1494555 |
| SNPshot | rs1494555 |
| SNPdbe | rs1494555 |
| MSV3d | rs1494555 |
| GWAS Ctlg | rs1494555 |
| GMAF | 0.326 |
| Max Magnitude | 0 |
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 |
|---|---|---|
|
| ||
| OMIM | 146661 |
| Desc | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE |
| Variant | 0002 |
| Related | also |
[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 Severe Combined Immune Deficiency |
| Variation | info |
| Gene | IL7R |
| CLNDBN | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive not specified Severe Combined Immune Deficiency |
| Reversed | 1 |
| HGVS | NC_000005.9:g.35871190G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015965.26, RCV000121214.2, RCV000397982.1, |
[PMID 16449530
] Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma.
[PMID 17327408] Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.
[PMID 17705862] Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.
[PMID 18633131] 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 18687755] Genetic variants in T helper cell type 1, 2 and 3 pathways and gastric cancer risk in a Polish population.
[PMID 19066394] Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma.
[PMID 19356949] Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.
[PMID 20952689] Cytokine polymorphisms in Th1/Th2 pathway genes, body mass index, and risk of non-Hodgkin lymphoma.
[PMID 21244681] Thymic stromal lymphopoietin (TSLP) is associated with allergic rhinitis in children with asthma.
[PMID 23692589] Polymorphism in the interleukin-7 receptor-alpha and outcome after allogeneic hematopoietic cell transplantation with matched unrelated donor.
