rs2240466
This is a intron variant variant in the BAZ1B gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
triglyceride measurement
Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)
Allele G
OR 0.12
p —
N 441,016
Large GWAS
European
Huang QQ et al. “Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals.” Nature Communications 13(1):4664 (2022)
Allele G
OR 0.12
p 1.0e-8
N 22,000
Large GWAS
South Asian
Aulchenko YS et al. “Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.” Nature Genetics 41(1):47-55 (2009)
Allele G
OR 0.14
p 1.0e-12
N 17,815
Large GWAS
European
1-stearoyl-2-arachidonoyl-GPI (18:0/20:4) measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.11
p 5.0e-13
N 14,296
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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