rs41283425

This variant is located in the JUP gene.

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GWAS Catalog Trait Associations (2)

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

balding measurement

Yap CX et al. “Dissection of genetic variation and evidence for pleiotropy in male pattern baldness.” Nature Communications 9(1):5407 (2018)

Allele T

OR 0.06

p 2.0e-15

N 205,327

Large GWAS

European

level of membrane primary amine oxidase in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.08

p 1.0e-12

N 47,745

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

18 submitters6 publications

not specified; Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Naxos disease;Arrhythmogenic right ventricular dysplasia 12; not provided; Cardiomyopathy

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]