rs7157599

This is a protein-altering variant in the DEGS2 gene.

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GWAS Catalog Trait Associations (1)

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

white matter hyperintensity measurement

Sargurupremraj M et al. “Cerebral small vessel disease genomics and its implications across the lifespan.” Nature Communications 11(1):6285 (2020)

Allele C

OR 0.04

p 7.0e-9

N 48,524

Large GWAS

multi-ancestry

About DEGS2

This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008]

View all DEGS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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