rs115459407

This is a upstream gene variant variant in the ANKRD11 gene.

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GWAS Catalog Trait Associations (1)

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

strand of hair color

Jiang L et al. “A generalized linear mixed model association tool for biobank-scale data.” Nature Genetics 53(11):1616-1621 (2021)

Allele A

OR 1.12

p 5.0e-33

N 455,164

Large GWAS

European

About ANKRD11

This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]

View all ANKRD11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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