rs16862281

This is a intergenic variant variant in the NBAS gene.

GWAS Catalog Trait Associations (1)

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

HETE measurement

Allele C
OR 2.28
p 1.0e-9
N 243
Small GWAS

About NBAS

This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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