GBA1 rs75253896: what the research says
This variant is associated with an increased risk of developing Parkinson's disease, particularly in individuals of Ashkenazi Jewish descent.
Enriched in Ashkenazi Jewish populations (~0.5%).
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A variant associated with the development of Gaucher disease and related neurological phenotypes.
A rare variant identified in clinical studies as a contributor to Gaucher disease pathology.
Pathogenic missense substitution (p.Leu483Pro / L444P) in GBA1 associated with Gaucher disease and elevated Parkinson risk in carriers.
A pathogenic missense substitution (p.Asn409Ser, legacy N370S) conferring carrier status for autosomal recessive Gaucher disease type 1, highly prevalent in Ashkenazi Jewish ancestry.
A pathogenic missense variant (p.Leu483Pro, legacy L444P) in GBA1 determining carrier status for Gaucher disease type 1/2/3 and acting as an established susceptibility risk factor for Parkinson disease.
Splice-site variant (c.84dupG / c.1263del+1G>A) causing severe deficiency in glucocerebrosidase activity and screened for Gaucher disease carrier status.