rs12379034
This is a intron variant variant in the CDK5RAP2 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.
rheumatoid arthritis
Lei Jiang et al. “Novel Risk Loci for Rheumatoid Arthritis in Han Chinese and Congruence With Risk Variants in Europeans” Arthritis & Rheumatology (2014)
Allele C
OR 1.49
p 1.0e-16
N 1,895
Large GWAS
East Asian
About CDK5RAP2
This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
View all CDK5RAP2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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