rs147803227

This variant is located in the JRK gene.

GWAS Catalog Trait Associations (1)

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

level of prostate stem cell antigen in blood

Allele T
OR 0.22
p 3.0e-22
N 47,745
Large GWAS
European

ClinVar annotation

Likely Benign★★★
3 submitters2 publications
View on ClinVar →

About JRK

This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

View all JRK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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