rs438568
This is a regulatory region variant variant.
▶GWAS Catalog Trait Associations (28)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (28)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of Ceramide (d40:2) 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 A
OR 0.23
p 4.0e-29
N 5,287
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 A
OR 0.24
p 2.0e-12
N 2,624
Large GWAS
European
cholesteryl esters to total lipids in IDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 2.0e-26
N 450,015
Large GWAS
multi-ancestry
Sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0) measurement
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele G
OR 0.16
p 3.0e-26
N 8,242
Large GWAS
European
Sphingomyelin (d18:1/20:0, d16:1/22:0) measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele A
OR 0.16
p 4.0e-25
N 8,809
Large GWAS
European
level of Ceramide (d42:2) 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 A
OR 0.28
p 4.0e-22
N 2,624
Large GWAS
European
myristoyl dihydrosphingomyelin (d18:0/14:0) measurement
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele G
OR 0.10
p 1.0e-21
N 4,959
Large GWAS
European
level of Ceramide (d40:1) 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 A
OR 0.27
p 1.0e-19
N 2,624
Large GWAS
European
N-stearoyl-sphingosine (d18:1/18:0) measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele A
OR 0.13
p 7.0e-19
N 8,809
Large GWAS
European
serum alanine aminotransferase amount
Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele A
OR 0.00
p 1.0e-18
N 437,267
Large GWAS
European
Sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0) 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 A
OR 0.09
p 2.0e-18
N 14,296
Large GWAS
European
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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