rs2230288

This is a variant in the GBA gene that changes a glutamate to an lysine.

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GWAS Catalog Trait Associations (3)

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

Parkinson disease

Doostparast Torshizi A et al. “Proteogenomic network analysis reveals dysregulated mechanisms and potential mediators in Parkinson's disease.” Nature Communications 15(1):6430 (2024)
Allele T
OR 0.40
p 1.0e-18
N 539,017
Large GWAS
European

Lewy body dementia

Chia R et al. “Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.” Nature Genetics 53(3):294-303 (2021)
Allele T
OR 2.01
p 5.0e-16
N 6,618
Large GWAS
European
Zhu P et al. “Genome-wide association study provides insights into the genetic basis of Lewy body dementia.” Molecular Psychiatry 30(12):5813-5827 (2025)
Allele T
OR 2.08
p 4.0e-15
N 8,953
Large GWAS
European
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ClinVar annotation

Pathogenic★★★☆
20 submitters28 publications

Abnormal speech pattern; Cogwheel rigidity; Dementia; Gaucher disease; Gaucher disease perinatal lethal; Gaucher disease type I (GD1); Hyperlipidemia; Hypertensive disorder; Lower limb muscle weakness; Parkinson disease, late-onset (PD); Parkinsonian disorder; Rigidity; Tremor; not specified

View on ClinVar →
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Research that mentions this SNP (1)

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A genome screen of successful aging without cognitive decline identifies LRP1B by haplotype analysis
AssociationN=3,923Poduslo SE et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

A genome-wide survival meta-analysis of 3,923 Parkinson's disease patients identified three genome-wide significant loci associated with progression to Parkinson's disease dementia: APOE rs429358 (HR=2.41, P=2.32×10−15), LRP1B rs80306347 (HR=3.23, P=7.07×10−9), and BBS9 rs78294974 (HR=3.90, P=3.59×10−8). The study reveals APOE ε4 and LRP1B as major risk factors and suggests the amyloid pathway's involvement in dementia development.

Traits studied:Cognitive decline in Parkinson's diseaseDementia progressionParkinson's disease dementia
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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