rs12610250

This is a intron variant variant in the CERS4 gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

sphingomyeline C18:0 measurement

Draisma HHM et al. “Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.” Nature Communications 6:7208 (2015)
Allele A
OR —
β 0.059
p 1.0e-25
N 7,478
Large GWAS
European

sphingomyeline C18:1 measurement

Draisma HHM et al. “Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.” Nature Communications 6:7208 (2015)
Allele A
OR —
β 0.056
p 1.0e-21
N 7,478
Large GWAS
European

level of Sphingomyelin (d36:1) in blood serum

Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele G
OR 0.19
p 5.0e-18
N 4,642
Large GWAS
European

sphingomyelin measurement

Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele G
OR 12.05
p 2.0e-33
N 16,839
Large GWAS
European
Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)
Allele G
OR 0.28
p 6.0e-36
N 4,492
Large GWAS
European

About CERS4

Enables sphingosine N-acyltransferase activity. Involved in ceramide biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all CERS4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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