rs113247976

This is a variant in the KIF5A gene that changes a proline to an leucine.

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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 Rheenen W et al. “Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.” Nature Genetics 53(12):1636-1648 (2021)

Allele T

OR 0.33

p 1.0e-11

N 138,086

Large GWAS

European

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ClinVar annotation

Uncertain Significance★★★☆

12 submitters3 publications

Amyotrophic lateral sclerosis (ALS); Hereditary spastic paraplegia; Hereditary spastic paraplegia 10 (SPG10); Spastic paraplegia; not specified

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About KIF5A

This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]

View all KIF5A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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