rs7869

This variant is located in the PSAP;CDH23 gene.

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GWAS Catalog Trait Associations (1)

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

CD83 antigen measurement

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 0.07

p 6.0e-41

N 47,745

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

3 submitters1 publication

Gaucher disease due to saposin C deficiency; Sphingolipid activator protein 1 deficiency; Retinitis pigmentosa-deafness syndrome; Combined PSAP deficiency; Krabbe disease due to saposin A deficiency; not provided; Hearing loss, autosomal recessive

View on ClinVar →

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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