rs376434190

This variant is located in the CEP41 gene.

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GWAS Catalog Trait Associations (1)

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

kidney transplant

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 3.24

p 2.0e-13

N 632,703

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Joubert syndrome 15

View on ClinVar →

About CEP41

This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

View all CEP41 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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