rs75822236

This is a variant in the GBA gene that changes a arginine to an histidine.

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GWAS Catalog Trait Associations (1)

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

brain aneurysm

Hong EP et al. “Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population.” Journal of Clinical Medicine 8(2) (2019)

Allele T

OR 161.40

p 1.0e-19

N 546

Small GWAS

East Asian

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ClinVar annotation

Pathogenic★★★☆

19 submitters31 publications

Gaucher disease; Gaucher disease perinatal lethal; Gaucher disease type I (GD1); Gaucher disease type II (GD2); Gaucher disease type III; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Lewy body dementia (DLB); Parkinson disease, late-onset (PD); not specified

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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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