rs12975290

This variant is located in the BORCS8-MEF2B gene.

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GWAS Catalog Trait Associations (1)

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

N-glycan measurement

Sharapov S et al. “A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins.” Nature Communications 16(1):5525 (2025)

Allele A

OR 0.01

p 1.0e-11

N 7,540

Large GWAS

multi-ancestry

About BORCS8-MEF2B

This gene represents numerous read-through transcripts that span GeneID:729991 and 100271849. Many read-through transcripts are predicted to be nonsense-mediated decay (NMD) candidates, and are thought to be non-coding. Some transcripts are predicted to be capable of translation reinitiation at a downstream AUG, resulting in expression of at least one isoform of myocyte enhancer factor 2B (MEF2B) from this read-through locus. At least one additional MEF2B variant and isoform can be expressed from a downstream promoter, and is annotated on GeneID:100271849. [provided by RefSeq, Oct 2010]

View all BORCS8-MEF2B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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