rs2746438
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.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Eczematoid dermatitis, allergic rhinitis
Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele T
OR 1.04
p 6.0e-11
N 323,807
Major Consortium StudyLarge GWAS
European
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.
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