rs12603055
This is a 3 prime utr variant variant in the KIF1C gene.
▶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.
keratoconus
Hardcastle AJ et al. “A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.” Communications Biology 4(1):266 (2021)
Allele C
OR 0.23
p 2.0e-14
N 26,742
Large GWAS
multi-ancestry
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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