rs7250982

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

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GWAS Catalog Trait Associations (3)

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

level of biotinidase 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 G
OR 0.10
p 9.0e-16
N 47,745
Large GWAS
European

transferrin glycosylation measurement

Landini A et al. “Genetic regulation of post-translational modification of two distinct proteins.” Nature Communications 13(1):1586 (2022)
Allele A
OR 0.69
p 5.0e-15
N 1,890
Large GWAS
European

lactoperoxidase measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR 0.48
p 3.0e-14
N 3,301
Large GWAS
European

About NRTN

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. A neurturin mutation has been described in a family with Hirschsprung Disease. [provided by RefSeq, Aug 2016]

View all NRTN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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