rs17095830

This is a intron variant variant in the ANO6 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

ankylosing spondylitis

Lin Z et al. “A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.” Nature Genetics 44(1):73-7 (2011)
Allele G
OR 1.29
p 2.0e-8
N 6,068
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis
AssociationN=1,939Maksymowych WP et al.(2009)· Arthritis &amp; Rheumatism

This case-control study of 735 Han Chinese ankylosing spondylitis (AS) patients and 1,204 healthy controls found no association between rs4552569 and rs17095830 polymorphisms and AS susceptibility, contradicting a prior GWAS finding. However, rs17095830 showed significant association with inflammatory bowel disease as an AS complication (P=0.0180, OR=1.739, 95% CI=1.146–2.639), and rs30187 (ERAP1) was associated with disease severity measured by BASDAI.

Traits studied:Ankylosing spondylitisInflammatory bowel disease
PubMedDOIMetascience Observatory

About ANO6

This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

View all ANO6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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