{{Rsnum
|rsid=27044
|Gene=ERAP1
|Chromosome=5
|position=96783148
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.3517
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=ERAP1,LOC102724748
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 55.4 | 38.5 | 6.2
| HCB | 35.6 | 46.7 | 17.8
| JPT | 40.9 | 31.8 | 27.3
| YRI | 48.4 | 45.2 | 6.5
| ASW | 0.0 | 0.0 | 0.0
| CHB | 35.6 | 46.7 | 17.8
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}
[[rs27044]] 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 1.40 (p=1.0x10e-6).[PMID 17952073, PMID 18037607]

A study of 872 Korean patients with ankylosing spondylitis also found a significant association with this SNP.{{PMID|19414429}}

{{ neighbor
| rsid = 17482078
| distance = 14
}}

{{PMID Auto
|PMID=19404951
|Title=Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis
}}

{{PMID Auto
|PMID=20032103
|Title=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 Auto
|PMID=22632381
|Title=ERAP1 genetic variations associated with HLA-B27 interaction and disease severity of syndesmophytes formation in Taiwanese ankylosing spondylitis
|OA=1
}}

{{PMID Auto
|PMID=21229357
|Title=The association between seven ERAP1 polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis involving 8,530 cases and 12,449 controls
}}

{{PMID Auto
|PMID=19433412
|Title=Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis.
}}

{{PMID Auto
|PMID=19692350
|Title=Investigating the genetic association between ERAP1 and ankylosing spondylitis.
|OA=1
}}

{{PMID Auto
|PMID=20595269
|Title=Serum cytokine receptors in ankylosing spondylitis: relationship to inflammatory markers and endoplasmic reticulum aminopeptidase polymorphisms.
}}

{{PMID Auto
|PMID=21865284
|Title=ERAP1 polymorphisms and haplotypes are associated with ankylosing spondylitis susceptibility and functional severity in a Spanish population.
}}

{{PMID Auto
|PMID=21877190
|Title=Associations between ERAP1 polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis.
}}

{{PMID Auto
|PMID=22355039
|Title=Endoplasmic reticulum aminopeptidase 1 (ERAP1) exhibits functionally significant interaction with HLA-B27 and relates to subtype specificity in ankylosing spondylitis.
}}

{{PMID Auto
|PMID=22896742
|Title=Investigating the genetic association between ERAP1 and spondyloarthritis
}}

{{GET Evidence
|gene=ERAP1
|aa_change=Gln730Glu
|aa_change_short=Q730E
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs27044
|overall_frequency_n=7593
|overall_frequency_d=10758
|overall_frequency=0.7058
|n_genomes=46
|n_genomes_annotated=0
|n_haplomes=70
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.003
|nblosum100=-2
|autoscore=0
|webscore=N
}}

{{PMID Auto
|PMID=23800305
|Title=Functional variants of ERAP1 gene are associated with HLA-B27 positive spondyloarthritis
}}

{{PMID Auto
|PMID=21833528
|Title=Susceptibility to ankylosing spondylitis: evidence for the role of ERAP1, TGFb1 and TLR9 gene polymorphisms.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}