rs5909186
This is a intron variant variant in the CDKL5 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.
blood protein amount
Orrù V et al. “Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.” Nature Genetics 52(10):1036-1045 (2020)
Allele G
OR 0.88
p 7.0e-9
N 3,629
Large GWAS
European
About CDKL5
This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
View all CDKL5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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