rs16916931

This variant is located in the ARID5B gene.

▶

GWAS Catalog Trait Associations (2)

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

ascending aorta diameter

Pirruccello JP et al. “The Genetic Determinants of Aortic Distention.” Journal of the American College of Cardiology 81(14):1320-1335 (2023)
Allele A
OR 0.05
p 1.0e-12
N 38,372
Large GWAS
European, NR
Pirruccello JP et al. “Deep learning enables genetic analysis of the human thoracic aorta.” Nature Genetics 54(1):40-51 (2022)
Allele A
OR 0.05
p 7.0e-11
N 33,637
Large GWAS
European

aortic measurement

Benjamins JW et al. “Genomic insights in ascending aortic size and distensibility.” Ebiomedicine 75:103783 (2022)
Allele A
OR 0.04
p 3.0e-8
N 31,908
Large GWAS

About ARID5B

This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

View all ARID5B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…