rs7253584

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GWAS Catalog Trait Associations (5)

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

level of Sphingomyelin (d36:2) 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 T
OR 0.18
p 2.0e-24
N 7,173
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 T
OR 0.16
p 4.0e-12
N 4,642
Large GWAS
European

serum metabolite level

Li Y et al. “Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.” Journal of the American Society of Nephrology : Jasn 29(5):1513-1524 (2018)
Allele C
OR 0.39
p 2.0e-14
N 1,143
Large GWAS
European

sphingomyelin measurement

Tabassum R et al. “Genetic architecture of human plasma lipidome and its link to cardiovascular disease.” Nature Communications 10(1):4329 (2019)
Allele C
OR 0.20
p 3.0e-9
N 2,045
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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