rs34620697

This variant is located in the DSG4 gene.

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GWAS Catalog Trait Associations (1)

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

level of desmoglein-4 in blood serum

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 0.25

p 2.0e-17

N 47,745

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

5 submitters2 publications

not provided; Hypotrichosis 6; not specified

View on ClinVar →

About DSG4

This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane component of desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and monilethrix, characterized by impaired hair growth. [provided by RefSeq, May 2016]

View all DSG4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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