rs10050860

Orientation

plus

Stabilized

plus

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.

Reference

GRCh38 38.1/141

Chromosome

5

Position

96786506

Gene

ERAP1

is a	snp
is	mentioned by
dbSNP	rs10050860
dbSNP (classic)	rs10050860
ClinGen	rs10050860
ebi	rs10050860
HLI	rs10050860
Exac	rs10050860
Gnomad	rs10050860
Varsome	rs10050860
LitVar	rs10050860
Map	rs10050860
PheGenI	rs10050860
Biobank	rs10050860
1000 genomes	rs10050860
hgdp	rs10050860
ensembl	rs10050860
geneview	rs10050860
scholar	rs10050860
google	rs10050860
pharmgkb	rs10050860
gwascentral	rs10050860
openSNP	rs10050860
23andMe	rs10050860
SNPshot	rs10050860
SNPdbe	rs10050860
MSV3d	rs10050860
GWAS Ctlg	rs10050860

GMAF

0.1322

Max Magnitude

1.7

?	(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 19692350] 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

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

[PMID 30412714] Association analysis of ERAP1 gene single nucleotide polymorphism in susceptibility to ankylosing spondylitis in Iranian population.

[PMID 31523044] Analysis of 47 non-MHC Ankylosing Spondylitis Susceptibility Loci Reveals Shared Associated Variants across Caucasians and Han Chinese.