GBA rs1141814: what the research says
This variant is a known pathogenic mutation associated with carrier status for Gaucher disease type 1.
What each genotype means
Typical GBA genotype
This genotype represents the common, non-pathogenic sequence at this position in the GBA gene. It is not associated with Gaucher disease carrier status.
This is the most common genotype found in the general population.
Gaucher disease carrier
This genotype indicates you carry one copy of a pathogenic GBA mutation associated with Gaucher disease. Because Gaucher disease is inherited in an autosomal recessive pattern, carrying a single mutation typically does not cause the disease, though carriers may have an increased risk for Parkinson's disease or other related conditions; please discuss any health concerns with your clinician.
Carrier frequency varies significantly by ancestry, with higher rates observed in Ashkenazi Jewish populations.
Gaucher disease associated genotype
This genotype indicates the presence of two copies of the pathogenic variant. This is associated with Gaucher disease type 1, an autosomal recessive condition; please consult with a medical geneticist or your healthcare provider to understand the clinical implications for your health.
This genotype is rare in the general population.
Variable
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This variant is a significant risk factor for the development of Gaucher disease and Parkinson's disease.
This variant is associated with an increased risk of developing Parkinson's disease.
This variant is associated with Gaucher disease, a lysosomal storage disorder.
This variant, also known as 84GG, is a pathogenic mutation associated with Gaucher disease.
This variant is associated with Gaucher disease, which can present with ocular manifestations including oculomotor apraxia.