RS421016 GBA1
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What This Variant Does
"rs421016, also known as L444P or Leu444Pro, is a SNP causing an amino acid change in the GBA gene
Associated Conditions
Gaucher disease type II
Gaucher disease type I
Dementia
Lewy body
susceptibility to
Gaucher disease type III
Parkinson disease
late-onset
Gaucher disease
Thoracolumbar scoliosis
Movement disorder
Resting tremor
Hypomimic face
Parkinsonian disorder
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
GWAS Studies (1)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Parkinson's disease | G | OR: 1.98 | 1E-14 | PubMed |
Other Variants in GBA1