rs2272587

This variant is located in the SPTLC2 gene.

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GWAS Catalog Trait Associations (2)

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

serine palmitoyltransferase 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.07

p 2.0e-29

N 47,745

Large GWAS

European

level of ceramide

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 0.14

p 1.0e-10

N 4,492

Large GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

not provided; Neuropathy, hereditary sensory and autonomic, type 1C

View on ClinVar →

About SPTLC2

This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]