rs148934699
This is a variant in the KIF1C gene that changes a proline to an leucine.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
kinesin-like protein KIF1C 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 0.48
p 1.0e-32
N 47,745
Large GWAS
European
▶ClinVar annotation
Pathogenic★★★☆
10 submitters3 publicationsHereditary spastic paraplegia; KIF1C-related disorder; Spastic ataxia 2
View on ClinVar →About KIF1C
The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014]
View all KIF1C variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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