rs4712524
This is a intron variant variant in the CDKAL1 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
systolic blood pressure
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.18
p 3.0e-15
N 1,164,961
Meta-analysisLarge GWAS
European
type 2 diabetes mellitus
Unoki H et al. “SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.” Nature Genetics 40(9):1098-102 (2008)
Allele G
OR 1.22
p 3.0e-10
N 1,752
Large GWAS
multi-ancestry
pulse pressure measurement
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.09
p 4.0e-9
N 1,164,961
Meta-analysisLarge GWAS
European
diastolic blood pressure
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.10
p 6.0e-9
N 810,865
Meta-analysisLarge GWAS
European
hypertension
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 5.79
p 7.0e-9
N 1,164,961
Meta-analysisLarge GWAS
European
About CDKAL1
The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]
View all CDKAL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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