GBA1 rs76763715: What Your Genotype Means
The rs76763715 variant in the GBA1 gene is a well-studied genetic alteration known as p.Asn409Ser (historically referred to as N370S). It is a pathogenic variant associated with carrier status for Gaucher disease type 1, a condition that is significantly more prevalent in individuals of Ashkenazi Jewish ancestry.
What each genotype means
Gaucher disease type 1
This genotype is associated with Gaucher disease type 1, a condition caused by reduced activity of the glucocerebrosidase enzyme. Individuals with this genotype may experience symptoms such as enlarged spleen or liver, bone pain, or blood abnormalities, though the severity can vary significantly and some individuals may remain asymptomatic. This variant is also known as N370S (or p.Asn409Ser).
This genotype is rare in the general population but is more frequently observed in individuals of Ashkenazi Jewish ancestry.
Gaucher disease carrier
This genotype indicates you are a carrier of the N370S (p.Asn409Ser) variant in the GBA1 gene. While carriers typically do not develop Gaucher disease, research suggests that carrying this variant may be associated with an increased risk for developing Parkinson's disease later in life. You should discuss these findings and any personal or family health history with a qualified healthcare provider or genetic counselor.
This genotype is carried by approximately 1 in 17 individuals of Ashkenazi Jewish ancestry, and is significantly less common in other populations.
Typical GBA1 profile
This genotype represents the common, non-pathogenic form of this specific GBA1 variant. It is not associated with an increased risk for Gaucher disease or the specific Parkinson's disease risk linked to the N370S mutation. This is considered the expected or reference result for this position in the general population.
This is the most common genotype found across all global populations.
Understanding the Variant and Its Location
The variant rs76763715 is a single nucleotide polymorphism (SNP) located within the GBA1 gene on chromosome 1. In scientific literature, this specific change is frequently identified by its protein-level effect, p.Asn409Ser, or the legacy nomenclature N370S. This missense substitution involves an alteration in the DNA sequence that results in a change to the amino acid structure of the encoded protein. Because this variant is located in a gene responsible for critical cellular maintenance, researchers have tracked its presence across various populations for decades. It is categorized as a pathogenic variant in clinical databases, meaning that inheriting specific combinations of this variant can have significant implications for health, particularly regarding the body's ability to process certain fats.
The Role of the GBA1 Gene
The GBA1 gene provides the essential instructions for producing an enzyme called lysosomal acid glucosylceramidase. This enzyme resides within lysosomes, which are the recycling centers of the cell. Its primary function is to break down a fatty substance known as glucosylceramide into simpler components, specifically glucose and ceramide. When the GBA1 gene contains pathogenic variants, the resulting enzyme may have reduced activity or stability. This leads to the accumulation of glucosylceramide within cells, which can interfere with normal cellular function. This process is the underlying mechanism for Gaucher disease, a lysosomal storage disorder. Because the enzyme is vital for membrane turnover and lipid metabolism, variations in this gene are also subjects of ongoing research regarding their potential influence on other conditions, such as Parkinson's disease.
Research Associations and Evidence Strength
The association between rs76763715 and Gaucher disease type 1 is well-established in clinical genetics. Research consistently identifies this variant as the most common pathogenic allele in Ashkenazi Jewish and European populations. While it is classified as pathogenic, the clinical expression can vary. Individuals who are carriers (having one copy of the variant) typically do not exhibit the symptoms of Gaucher disease. However, inheriting two copies of pathogenic GBA1 variants can lead to the development of Gaucher disease type 1, which is often characterized by non-neurological symptoms such as organ enlargement or bone issues. Some studies have also explored a potential link between GBA1 variants and an increased susceptibility to Parkinson's disease, though the evidence regarding the specific impact of this variant on neurological risk remains a subject of active investigation and is considered a topic for higher-attention clinical monitoring.
Population Frequency and Distribution
The frequency of the rs76763715 variant is notably higher in the Ashkenazi Jewish population compared to the general global population. Data from large-scale genomic projects like gnomAD indicate an allele frequency of approximately 0.032 in Ashkenazi Jewish individuals, whereas it is much rarer in other groups, such as non-Finnish Europeans, where the frequency is approximately 0.001. This distribution is largely attributed to historical founder effects, where a small group of ancestors passed the variant down through generations. Because of this, genetic screening for this specific variant is often included in carrier panels for individuals of Ashkenazi Jewish descent. It is important to note that while the variant is common in this specific ancestry, it remains extremely rare in many other global populations, highlighting the importance of ancestry-aware genetic interpretation.
Interpreting Your Genetic Information
If you have received information about your status for rs76763715, it is essential to understand that this is a complex area of clinical genetics. Being a carrier does not mean you have the disease, but it may be relevant for family planning or understanding your personal health profile. Because GBA1 variants can have different clinical implications depending on the specific combination of alleles inherited, you should never use this information to self-diagnose or make medical decisions. If you are concerned about your results or your family history, the most appropriate step is to consult with a board-certified genetic counselor or a medical geneticist. These professionals can provide context based on your full genetic profile and clinical history, ensuring that you receive accurate information tailored to your specific situation.
How common is this variant?
The variant is significantly more common in the Ashkenazi Jewish population, with an allele frequency of approximately 0.032, compared to approximately 0.001 in non-Finnish European populations.
Frequently asked questions
What is the difference between N370S and rs76763715?
They refer to the same genetic variant. N370S (or p.Asn409Ser) is the name used to describe the specific change in the protein, while rs76763715 is the unique identifier used in scientific databases to track this specific location in the DNA.
Does having this variant mean I have Gaucher disease?
Not necessarily. Gaucher disease is typically an autosomal recessive condition, meaning it usually requires two copies of a pathogenic variant to manifest. If you are a carrier with only one copy, you generally do not have the disease.
Is this variant linked to Parkinson's disease?
Some research suggests that individuals with GBA1 variants may have an increased susceptibility to Parkinson's disease. However, this is a complex area of study, and having the variant does not guarantee that an individual will develop the condition.
Should I get tested for this variant?
Genetic testing is a personal decision often guided by family history or ancestry. If you are considering testing, it is best to speak with a healthcare provider or a genetic counselor who can explain the implications of the results.
Sources & further reading
Educational information only, last refreshed 9/24/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs76763715?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in GBA1
Also known as the N370S (p.Asn409Ser) mutation, this missense variant is a classic cause of Gaucher disease type 1 in homozygotes and significantly elevates Parkinson's disease risk in heterozygotes.
A variant in the GBA1 gene associated with Gaucher disease and increased risk for Parkinson's disease.
Pathogenic missense substitution (p.Leu483Pro / L444P) in GBA1 associated with Gaucher disease.
A pathogenic missense variant (p.Leu483Pro, legacy L444P) in GBA1 determining carrier status for Gaucher disease and acting as a susceptibility risk factor for Parkinson disease.
Pathogenic variant (c.84dupG) causing severe deficiency in glucocerebrosidase activity, associated with Gaucher disease.
A pathogenic variant (p.Asn409Ser, formerly N370S) in GBA1 associated with Gaucher disease and increased risk for Parkinson disease.