rs1178979

This is a intron variant variant in the BAZ1B gene.

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GWAS Catalog Trait Associations (3)

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

triglyceride measurement

Waterworth DM et al. “Genetic variants influencing circulating lipid levels and risk of coronary artery disease.” Arteriosclerosis, Thrombosis, and Vascular Biology 30(11):2264-76 (2010)

Allele A

OR 0.05

p 2.0e-12

N 17,723

Large GWAS

multi-ancestry

diastolic blood pressure

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)

Allele C

OR 0.01

p 1.0e-10

N 1,212,859

Large GWAS

European

protein C measurement

Pankow JS et al. “Identification of Genetic Variants Linking Protein C and Lipoprotein Metabolism: The ARIC Study (Atherosclerosis Risk in Communities).” Arteriosclerosis, Thrombosis, and Vascular Biology 37(3):589-597 (2017)

Allele C

OR —

β 0.060

p 3.0e-8

N 13,484

CohortLarge GWAS

multi-ancestry

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]