Have questions? Visit https://www.reddit.com/r/SNPedia

rs10050860

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 1.3 Normal risk (about 0.1%) for Ankylosing Spondylitis.
(C;T) 1.4 0.71x lower risk for Ankylosing Spondylitis.
(T;T) 1.7 Half the risk (about 0.05%) of Ankylosing Spondylitis.
ReferenceGRCh38 38.1/141
Chromosome5
Position96786506
GeneERAP1
is asnp
is mentioned by
dbSNPrs10050860
ebirs10050860
HLIrs10050860
Exacrs10050860
Varsomers10050860
Maprs10050860
PheGenIrs10050860
hapmaprs10050860
1000 genomesrs10050860
hgdprs10050860
ensemblrs10050860
gopubmedrs10050860
geneviewrs10050860
scholarrs10050860
googlers10050860
pharmgkbrs10050860
gwascentralrs10050860
openSNPrs10050860
23andMers10050860
23andMe allrs10050860
SNP Nexus

SNPshotrs10050860
SNPdbers10050860
MSV3drs10050860
GWAS Ctlgrs10050860
GMAF0.1322
Max Magnitude1.7
? (C;C) (C;T) (T;T) 28
rs10050860 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=7.7x10e-9).[PMID 17952073, PMID 18037607]

Note that the text description (but not the result) at 23andMe is wrong. It is the uncommon T allele that gives protection.


[PMID 19404951] Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis


[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 19433412] Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis.

[PMID 19692350OA-icon.png] Investigating the genetic association between ERAP1 and ankylosing spondylitis.

[PMID 20595269] Serum cytokine receptors in ankylosing spondylitis: relationship to inflammatory markers and endoplasmic reticulum aminopeptidase polymorphisms.

[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-D575N
aa_change Asp575Asn
aa_change_short D575N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.175218
summary



[PMID 25740711] ERAP1 gene expression is influenced by non-synonymous polymorphisms associated with predisposition to spondyloarthritis