rs61399373
This variant is located in the SPNS2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of Sphingomyelin (d34:0) 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 T
OR 0.54
p 3.0e-9
N 4,642
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout SPNS2
The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016]
View all SPNS2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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