rs115399307

This variant is located in the FOXI1 gene.

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GWAS Catalog Trait Associations (1)

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

transferrin glycosylation measurement

Landini A et al. “Genetic regulation of post-translational modification of two distinct proteins.” Nature Communications 13(1):1586 (2022)

Allele T

OR 0.94

p 5.0e-10

N 1,890

Large GWAS

European

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ClinVar annotation

Conflicting Classifications

8 submitters5 publications

not specified; not provided; Autosomal recessive nonsyndromic hearing loss 4; FOXI1-related disorder

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About FOXI1

This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protein has been found to be required for the transcription of four subunits of a proton pump found in the inner ear, the kidney, and the epididymis. Mutations in this gene have been associated with deafness, autosomal recessive 4. [provided by RefSeq, Jan 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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