rs2336171
This is a regulatory region variant variant in the CERS4 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of Sphingomyelin (d38:2) in blood serum
Ottensmann L et al. “Genome-wide association analysis of plasma lipidome identifies 495 genetic associations.” Nature Communications 14(1):6934 (2023)
Allele C
OR 0.26
p 6.0e-53
N 7,150
Large GWAS
European
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 C
OR 0.27
p 2.0e-34
N 4,642
Large GWAS
European
sphingomyelin measurement
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele C
OR 0.24
p 1.0e-38
N 6,136
Large GWAS
European
serum metabolite level
Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)
Allele G
OR 0.20
p 6.0e-16
N 3,926
Large GWAS
Hispanic or Latin American
Sphingomyelin (d18:1/14:0, d16:1/16:0) measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele C
OR 0.07
p 5.0e-11
N 14,296
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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