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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
ebirs2287987
HLIrs2287987
Exacrs2287987
Varsomers2287987
Maprs2287987
PheGenIrs2287987
hapmaprs2287987
1000 genomesrs2287987
hgdprs2287987
ensemblrs2287987
gopubmedrs2287987
geneviewrs2287987
scholarrs2287987
googlers2287987
pharmgkbrs2287987
gwascentralrs2287987
openSNPrs2287987
23andMers2287987
23andMe allrs2287987
SNP Nexus

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


GET Evidence
ERAP1-M349V
aa_change Met349Val
aa_change_short M349V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.17559
summary