rs113170157

This is a upstream gene variant variant in the DNAAF2 gene.

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GWAS Catalog Trait Associations (2)

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

level of nodal modulator 1 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 C

OR 0.04

p 7.0e-12

N 47,745

Large GWAS

European

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)

Allele G

OR 0.15

p 1.0e-9

N 3,200

Large GWAS

European

About DNAAF2

This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

View all DNAAF2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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