rs11972595

This is a intron variant variant in the BAZ1B gene.

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GWAS Catalog Trait Associations (1)

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

birth weight

Plotnikov D et al. “Association between birth weight and refractive error in adulthood: a Mendelian randomisation study.” The British Journal of Ophthalmology 104(2):214-219 (2020)

Allele T

OR 0.04

p 2.0e-9

N 188,039

Large GWAS

European

Yang XL et al. “Three Novel Loci for Infant Head Circumference Identified by a Joint Association Analysis.” Frontiers in Genetics 10:947 (2019)

Allele T

OR 0.04

p 5.0e-9

N 182,902

Large GWAS

European

About BAZ1B

This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]

View all BAZ1B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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