rs2230288, also known as E326K or E365K, is a variation in the GBA gene which appears to be well tolerated; in other words, it is not associated with Gaucher disease.

However, there is some evidence suggesting it is not a neutral polymorphism; instead, it appears to be a "modifier" variant.[PMID 11903352]


Parent Gene: GBA

Importance: 1
Less common allele: T = 0%
More common allele: C = 100%
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Risk Allele:

Disease/Trait: Parkinson's Disease

rs2230288 is associated with Parkinson's Disease (R) . It is reported to increased association with Parkinson's disease. No specific risk allele was identified in the study.