rs5909184
This variant is located in the CDKL5 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
serum creatinine amount
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.02
p 5.0e-35
N 494,370
Large GWAS
multi-ancestry
glomerular filtration rate
Scholz M et al. “X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements.” Nature Communications 15(1):586 (2024)
Allele T
OR 0.00
p 5.0e-22
N 773,980
Large GWAS
multi-ancestry
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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