Rs6897932
| is a | snp |
| is | mentioned by |
| dbSNP | rs6897932 |
| nextbio | rs6897932 |
| hapmap | rs6897932 |
| 1000 genomes | rs6897932 |
| hgdp | rs6897932 |
| ensembl | rs6897932 |
| gopubmed | rs6897932 |
| scholar | rs6897932 |
| rs6897932 | |
| pharmgkb | rs6897932 |
| gwascentral | rs6897932 |
| openSNP | rs6897932 |
| 23andMe | rs6897932 |
| 23andMe all | rs6897932 |
| SNP Nexus | |
| SNPshot | rs6897932 |
| SNPdbe | rs6897932 |
| MSV3d | rs6897932 |
| Gene | IL7R |
| Chromosome | 5 |
| Orientation | plus |
| Position | 35874575 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 2 |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2 | 1.5x increased risk for multiple sclerosis |
| (C;T) | 1.3x increased risk for multiple sclerosis | |
| (T;T) | normal |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
Note that the (C) allele is the most common at this position in all known populations and influences the ratios of the alternative isoforms (membrane bound and soluble) of the gene.
blog post giving perspective on the significance of this snp
[PMID 17660817] a significant risk factor for multiple sclerosis in four independent (overall P = 2.9 x 10(-7)) influences the amount of soluble and membrane-bound isoforms of the protein by putatively disrupting an exonic splicing silencer.
nejm C allele increasing the risk of multiple sclerosis (odds ratio, approximately 1.2)
[PMID 18721276] A replication case-control study involving 599 Spanish patients with multiple sclerosis yielded a per allele odds ratio of 1.32 per rs6897932(C), (CI: 1.1-1.6, p = 0.0031), and odds per (C;C) genotype vs (T;T) and (C;T) genotypes of 1.5 (CI: 1.18-1.87, p = 0.0007).
| GWAS | |
|---|---|
| SNP | rs6897932 |
| PubMedID | [PMID 17660530] |
| Condition | Multiple sclerosis |
| Gene | IL7RA |
| Risk Allele | C |
| pValue | 3.00E-007 |
| OR | 1.18 |
| 95% CI | 1.11-1.26 |
| GWAS snp | |
|---|---|
| PMID | [PMID 17554260] |
| Trait | Type 1 diabetes |
| Title | Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes |
| Risk Allele | G |
| P-val | 0.0000079999999999999996 |
| Odds Ratio | 1.12 [1.06-1.19] |
| GWAS snp | |
|---|---|
| PMID | [PMID 19525953] |
| Trait | Multiple sclerosis |
| Title | Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci |
| Risk Allele | C |
| P-val | 0.000002 |
| Odds Ratio | 1.12 [1.02-1.23] |
[PMID 19626041] Variation in IL7R predisposes to sarcoid inflammation
[PMID 19744146] IL7RA polymorphisms and chronic inflammatory arthropathies
[PMID 18650830] Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians
| PharmGKB | PA162356686 |
| Name | |
| Annotation | GWAS Results: Risk alleles for multiple sclerosis identified by a genomewide study (Initial Sample Size: 931 trios, 2,431 controls; Replication Sample Size: 609 trios, 2,322 cases, 2,987 controls; Risk Allele: rs6897932-C). |
| Gene | IL7R |
| Featue | |
| Evidence | PubMed ID:17660530; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Multiple Sclerosis |
| Curation Level | Non-Curated |
[PMID 20112030] Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility
[PMID 20952449] Evaluation of the established non-MHC multiple sclerosis loci in an Indian population
| PharmGKB | PA161925604 |
| Name | IL7R: T244I |
| Annotation | This nonsynonymous coding SNP in exon 6 of IL7R showed highly significant evidence of association with multiple sclerosis. |
| Gene | IL7R |
| Featue | |
| Evidence | PubMed ID:17660530 |
| Drugs | |
| Diseases | Multiple Sclerosis |
| Curation Level | Curated |
| PharmGKB | PA162356124 |
| Name | |
| Annotation | In a case-control study of Nordic populations, rs6897932 was the most strongly associated of several SNPs associated with risk of multiple sclerosis. |
| Gene | IL7R |
| Featue | |
| Evidence | PubMed ID:17660816 |
| Drugs | |
| Diseases | Multiple Sclerosis |
| Curation Level | Curated |
[PMID 21287555] The interleukin-7 receptor ? chain contributes to altered homeostasis of regulatory T cells in multiple sclerosis
[PMID 21543551] Relevance of IL7R genotype and mRNA expression in Dutch patients with multiple sclerosis
[PMID 22363405] Sample Reproducibility of Genetic Association Using Different Multimarker TDTs in Genome-Wide Association Studies: Characterization and a New Approach