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rs2287987

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0.71x lower risk for spondylitis
(C;T) 0.71x lower risk for spondylitis
(T;T) 0 normal risk
ReferenceGRCh38 38.1/141
Chromosome5
Position96793832
GeneERAP1
is asnp
is mentioned by
dbSNPrs2287987
dbSNP (classic)rs2287987
ClinGenrs2287987
ebirs2287987
HLIrs2287987
Exacrs2287987
Gnomadrs2287987
Varsomers2287987
LitVarrs2287987
Maprs2287987
PheGenIrs2287987
Biobankrs2287987
1000 genomesrs2287987
hgdprs2287987
ensemblrs2287987
geneviewrs2287987
scholarrs2287987
googlers2287987
pharmgkbrs2287987
gwascentralrs2287987
openSNPrs2287987
23andMers2287987
SNPshotrs2287987
SNPdbers2287987
MSV3drs2287987
GWAS Ctlgrs2287987
GMAF0.1304
Max Magnitude0
? (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 19692350OA-icon.png] 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 30215709OA-icon.png] 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.