rs11154801

This is a intron variant variant in the AHI1 gene.

▶

GWAS Catalog Trait Associations (1)

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

multiple sclerosis

Beecham AH et al. “Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.” Nature Genetics 45(11):1353-60 (2013)
Allele A
OR 1.12
p 2.0e-20
N 38,589
Large GWAS
European
Sawcer S et al. “Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.” Nature 476(7359):214-9 (2011)
Allele A
OR 1.13
p 1.0e-13
N 26,621
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
Functional relevance for multiple sclerosis-associated genetic variants
FunctionalXiang Lin et al.(2015)· Immunogenetics

Functional analysis of 284 MS-associated genetic variants using integrative approaches including GRAIL analysis, eQTL analysis, and differential gene expression. Identified 45 SNPs acting as cis-regulators on 19 MS-associated genes, with 6 key SNPs (rs3095329, rs9469220, rs2647046, rs11154801, rs1062158, rs7194) showing strong functional evidence via transcription factor binding sites or microRNA targets and differential expression in immune cells.

Traits studied:Multiple sclerosis
PubMedDOIMetascience Observatory

About AHI1

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

View all AHI1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…