rs3750434

This variant is located in the GBA2 gene.

▶

GWAS Catalog Trait Associations (2)

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

glycosyl ceramide (d18:1/20:0, d16:1/22:0) 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 A

OR 0.12

p 1.0e-14

N 8,259

Large GWAS

European

glycosyl-N-behenoyl-sphingadienine (d18:2/22:0) 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 A

OR 0.10

p 1.0e-11

N 8,232

Large GWAS

European

▶

ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

About GBA2

This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]