rs3115534

This variant is located in the GBA1 gene.

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GWAS Catalog Trait Associations (2)

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

Parkinson disease

Rizig M et al. “Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.” The Lancet. Neurology 22(11):1015-1025 (2023)

Allele G

OR 1.58

p 2.0e-14

N 197,918

Large GWAS

multi-ancestry

level of lysosomal acid glucosylceramidase in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)

Allele T

OR 0.60

p 6.0e-14

N 466

Small GWAS

African American or Afro-Caribbean

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ClinVar annotation

Benign★★★☆

5 submitters2 publications

not specified; not provided; Gaucher disease perinatal lethal; Gaucher disease type I; Gaucher disease

View on ClinVar →

About GBA1

This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]