rs2287987
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0.71x lower risk for spondylitis | |
| (C;T) | 0.71x lower risk for spondylitis | |
| (T;T) | 0 | normal risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 96793832 |
| Gene | ERAP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2287987 |
| dbSNP (classic) | rs2287987 |
| ClinGen | rs2287987 |
| ebi | rs2287987 |
| HLI | rs2287987 |
| Exac | rs2287987 |
| Gnomad | rs2287987 |
| Varsome | rs2287987 |
| LitVar | rs2287987 |
| Map | rs2287987 |
| PheGenI | rs2287987 |
| Biobank | rs2287987 |
| 1000 genomes | rs2287987 |
| hgdp | rs2287987 |
| ensembl | rs2287987 |
| geneview | rs2287987 |
| scholar | rs2287987 |
| rs2287987 | |
| pharmgkb | rs2287987 |
| gwascentral | rs2287987 |
| openSNP | rs2287987 |
| 23andMe | rs2287987 |
| SNPshot | rs2287987 |
| SNPdbe | rs2287987 |
| MSV3d | rs2287987 |
| GWAS Ctlg | rs2287987 |
| GMAF | 0.1304 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs2287987 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 0.71 (p=1.0x10e-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
[PMID 29183862] The association of ERAP1 and ERAP2 single nucleotide polymorphisms and their haplotypes with psoriasis vulgaris is dependent on the presence or absence of the HLA-C∗06:02 allele and age at disease onset.
[PMID 30215709] Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.
[PMID 30794838] ERAP1-ERAP2 haplotypes are associated with ankylosing spondylitis in Polish patients.
[PMID 31711818] Evaluation of ERAP1 gene single nucleotide polymorphisms in immunomodulation of pro-inflammatory and anti-inflammatory cytokines profile 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.
