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 |
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.
- Is a snp
- In dbSNP
- SNPs on chromosome 5
- Has genotype
- Has population
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip 23andMe v5
- On chip Affy GenomeWide 6
- On chip Ancestry v2c
- On chip Ancestry v2
- On chip FTDNA2
- On chip FTDNA
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip Ancestry v2d
- Pages using PMID magic links