rs117656447

This variant is located in the DSG1 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-3 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 C
OR 0.16
p 1.0e-14
N 47,745
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
4 submitters2 publications

not provided; Palmoplantar keratoderma i, striate, focal, or diffuse;Severe dermatitis-multiple allergies-metabolic wasting syndrome

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About DSG1

This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015]

View all DSG1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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