rs13244268

This is a intron variant variant in the BAZ1B gene.

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GWAS Catalog Trait Associations (2)

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

triglyceride measurement

Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)

Allele C

OR 0.13

p 1.0e-23

N 38,000

Large GWAS

South Asian

C-reactive protein measurement, high density lipoprotein cholesterol measurement

Ligthart S et al. “Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.” Bmc Genomics 17:443 (2016)

Allele T

OR —

p 1.0e-13

N 164,900

Large GWAS

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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