rs4820299

This is a intron variant variant in the TRIOBP gene.

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GWAS Catalog Trait Associations (1)

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

lateral ventricle volume measurement

Vojinovic D et al. “Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume.” Nature Communications 9(1):3945 (2018)
Allele T
OR 6.46
p 1.0e-10
N 23,533
Large GWAS
multi-ancestry

About TRIOBP

This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]

View all TRIOBP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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