rs1178977

This is a splice region 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.

urate measurement

Boocock J et al. “Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control.” Human Molecular Genetics 29(6):923-943 (2020)
Allele A
OR 0.05
p 5.0e-14
N 131,709
Large GWAS
multi-ancestry
Köttgen A et al. “Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.” Nature Genetics 45(2):145-54 (2013)
Allele A
OR 0.05
p 1.0e-12
N 110,347
Large GWAS
European
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Research that mentions this SNP (1)

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Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study
AssociationN=2,701Munir MS et al.(2014)· Genetic Epidemiology

Genome-wide association study of plasma protein C levels in 2,701 African Americans from the ARIC study identified 79 genome-wide significant SNPs in two regions (2q14 and 20q11). The top signal was rs867186 (missense, S219G in PROCR; p=9.84×10⁻⁶⁵, β=0.49 µg/ml, 10% variance explained). Additional significant hits were rs7580658 and rs1799808 near the PROC gene, and novel associations with CYP27C1 and MYO7B were discovered.

Traits studied:Anticoagulant levelsPlasma protein C level
PubMedDOIMetascience Observatory

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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