rs61740509
This variant is located in the CCDC40;GAA gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of N-sulphoglucosamine sulphohydrolase 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 A
OR 0.40
p 1.0e-20
N 47,745
Large GWAS
European
▶ClinVar annotation
Likely Benign★★★☆
9 submitters3 publicationsnot specified; Primary ciliary dyskinesia; Glycogen storage disease, type II; Primary ciliary dyskinesia 15; not provided
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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