rs74447004

This variant is located in the TTC21B gene.

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GWAS Catalog Trait Associations (1)

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

polypeptide N-acetylgalactosaminyltransferase 3 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 0.27
p 2.0e-12
N 47,745
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
12 submitters3 publications

not specified; Nephronophthisis 12; Asphyxiating thoracic dystrophy 4; Jeune thoracic dystrophy;Nephronophthisis; not provided

View on ClinVar →

About TTC21B

This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]

View all TTC21B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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