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rs17482078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 0.76x lower risk for spondylitis
(C;T) 0.76x lower risk for spondylitis
(T;T) normal risk
ReferenceGRCh38 38.1/141
Chromosome5
Position96783162
GeneERAP1, LOC102724748
is asnp
is mentioned by
dbSNPrs17482078
ebirs17482078
HLIrs17482078
Exacrs17482078
Varsomers17482078
Maprs17482078
PheGenIrs17482078
hapmaprs17482078
1000 genomesrs17482078
hgdprs17482078
ensemblrs17482078
gopubmedrs17482078
geneviewrs17482078
scholarrs17482078
googlers17482078
pharmgkbrs17482078
gwascentralrs17482078
openSNPrs17482078
23andMers17482078
23andMe allrs17482078
SNP Nexus

SNPshotrs17482078
SNPdbers17482078
MSV3drs17482078
GWAS Ctlgrs17482078
GMAF0.1304
Max Magnitude0
? (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]
Neighborrs27044
Distance14


[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-R725Q
aa_change Arg725Gln
aa_change_short R725Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.166667
summary



GWAS snp
PMID [PMID 23291587OA-icon.png]
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