rs12225230
This is a variant in the SIK3 gene that changes a proline to an arginine.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
high density lipoprotein cholesterol measurement
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.055
p 8.0e-29
N 94,674
Large GWAS
multi-ancestry
triglyceride measurement
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.030
p 2.0e-9
N 94,674
Large GWAS
multi-ancestry
total cholesterol measurement
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.045
p 8.0e-14
N 94,674
Large GWAS
multi-ancestry
▶ClinVar annotation
Benign★☆☆☆
3 submitters1 publicationSIK3-related disorder; Spondyloepimetaphyseal dysplasia, Krakow type
View on ClinVar →About SIK3
Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in positive regulation of TORC1 signaling; positive regulation of TORC2 signaling; and protein phosphorylation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all SIK3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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