rs55634776

This variant is located in the JUP gene.

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GWAS Catalog Trait Associations (1)

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

bone mineral content measurement

Livingstone KM et al. “Discovery Genome-Wide Association Study of Body Composition in 4,386 Adults From the UK Biobank's Pilot Imaging Enhancement Study.” Frontiers in Endocrinology 12:692677 (2021)
Allele T
OR 39.77
p 1.0e-8
N 2,109
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Conflicting Classifications
2 submitters

Naxos disease; not provided; Arrhythmogenic right ventricular dysplasia 12

View on ClinVar →

About JUP

This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]

View all JUP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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