rs17482078
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | 0.76x lower risk for spondylitis |
| (C;T) | 0.76x lower risk for spondylitis | |
| (T;T) | normal risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 96783162 |
| Gene | ERAP1, LOC102724748 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17482078 |
| dbSNP (classic) | rs17482078 |
| ClinGen | rs17482078 |
| ebi | rs17482078 |
| HLI | rs17482078 |
| Exac | rs17482078 |
| Gnomad | rs17482078 |
| Varsome | rs17482078 |
| LitVar | rs17482078 |
| Map | rs17482078 |
| PheGenI | rs17482078 |
| Biobank | rs17482078 |
| 1000 genomes | rs17482078 |
| hgdp | rs17482078 |
| ensembl | rs17482078 |
| geneview | rs17482078 |
| scholar | rs17482078 |
| rs17482078 | |
| pharmgkb | rs17482078 |
| gwascentral | rs17482078 |
| openSNP | rs17482078 |
| 23andMe | rs17482078 |
| SNPshot | rs17482078 |
| SNPdbe | rs17482078 |
| MSV3d | rs17482078 |
| GWAS Ctlg | rs17482078 |
| GMAF | 0.1304 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs17482078 is one of several SNPs in the ERAP1 gene that has been shown in a large (over 1,000 Caucasian patients) study to be associated with ankylosing spondylitis. The odds ratio is 0.70 (p=1.2x10e-8).[PMID 17952073, PMID 18037607]
[PMID 20032103] Association of ARTS1 Gene Polymorphisms with Ankylosing Spondylitis in the Hungarian Population: The rs27044 Variant Is Associated with HLA-B*2705 Subtype in Hungarian Patients with Ankylosing Spondylitis
[PMID 19414429] ARTS1 polymorphisms are associated with ankylosing spondylitis in Koreans
[PMID 21229357] The association between seven ERAP1 polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis involving 8,530 cases and 12,449 controls
[PMID 19692350
] Investigating the genetic association between ERAP1 and ankylosing spondylitis.
[PMID 21865284] ERAP1 polymorphisms and haplotypes are associated with ankylosing spondylitis susceptibility and functional severity in a Spanish population.
[PMID 21877190] Associations between ERAP1 polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis.
[PMID 22896742] Investigating the genetic association between ERAP1 and spondyloarthritis
| GWAS snp | |
|---|---|
| PMID | [PMID 23291587]
|
| Trait | Behcet's disease |
| Title | Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1. |
| Risk Allele | T |
| P-val | 4E-8 |
| Odds Ratio | 3.08 [2.04-4.65] |
[PMID 25740711] ERAP1 gene expression is influenced by non-synonymous polymorphisms associated with predisposition to spondyloarthritis
[PMID 30412714] Association analysis of ERAP1 gene single nucleotide polymorphism in susceptibility to ankylosing spondylitis in Iranian population.
[PMID 30740926] Susceptibility to ERAP1 gene single nucleotide polymorphism modulates the inflammatory cytokine setting in ankylosing spondylitis.
[PMID 31790864] From structure to function for the characterization of ERAP1 active site in Behçet syndrome. A novel polymorphism associated with known gene variations.
