rs941207

This variant is located in the BAZ2A gene.

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GWAS Catalog Trait Associations (2)

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

aspartate aminotransferase measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.02
p 5.0e-14
N 354,541
Major Consortium StudyLarge GWAS
multi-ancestry

platelet count

Gieger C et al. “New gene functions in megakaryopoiesis and platelet formation.” Nature 480(7376):201-8 (2011)
Allele G
OR 2.75
p 2.0e-10
N 48,666
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.02
p 4.0e-8
N 148,623
Large GWAS
East Asian

About BAZ2A

Enables histone binding activity. Contributes to RNA polymerase I core promoter sequence-specific DNA binding activity. Predicted to be involved in DNA methylation-dependent constitutive heterochromatin formation; negative regulation of transcription by RNA polymerase I; and rDNA heterochromatin formation. Predicted to act upstream of or within heterochromatin formation. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Jul 2025]

View all BAZ2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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