rs10260404

This variant is located in the DPP6 gene.

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GWAS Catalog Trait Associations (1)

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

amyotrophic lateral sclerosis

van Es MA et al. “Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.” Nature Genetics 40(1):29-31 (2008)

Allele C

OR 1.30

p 5.0e-8

N 1,458

Large GWAS

European

About DPP6

This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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