ASPSCR1 rs192423465: What Your Genotype Means
The rs192423465 variant is a rare genetic marker located within the ASPSCR1 gene. It has been identified as a novel genome-wide significant locus associated with Alzheimer's disease in large-scale multi-ancestry studies.
What each genotype means
Typical ASPSCR1 trait profile
This rare variant in the ASPSCR1 gene has been identified as a genome-wide significant locus for Alzheimer's disease in multi-ancestry studies. Because this association is based on large-scale statistical data, it does not provide a personal diagnosis.
This is a rare variant.
Typical ASPSCR1 trait profile
This rare variant in the ASPSCR1 gene has been identified as a genome-wide significant locus for Alzheimer's disease in multi-ancestry studies. Because this association is based on large-scale statistical data, it does not provide a personal diagnosis.
This is a rare variant.
Typical ASPSCR1 trait profile
This rare variant in the ASPSCR1 gene has been identified as a genome-wide significant locus for Alzheimer's disease in multi-ancestry studies. Because this association is based on large-scale statistical data, it does not provide a personal diagnosis.
This is a rare variant.
Understanding the Variant and Its Location
The rs192423465 variant is a specific genetic change identified by its rsID, which serves as a unique label for a single nucleotide polymorphism (SNP) in the human genome. This variant is located within the ASPSCR1 gene, which stands for Alveolar Soft Part Sarcoma Chromosome Region, Candidate 1. Geneticists use these identifiers to pinpoint exact locations on chromosomes where variations occur. By studying these specific sites, researchers can perform genome-wide association studies (GWAS) to determine if certain genetic patterns are more common in individuals with specific health conditions compared to the general population. Because rs192423465 is classified as a rare variant, it is not commonly found in the general population, which makes it a significant focus for researchers aiming to uncover the genetic factors that contribute to complex diseases like Alzheimer's.
The Role of the ASPSCR1 Gene
The ASPSCR1 gene encodes a protein that plays a role in intracellular trafficking and protein transport within cells. In the context of neurobiology, the proper movement of proteins is essential for maintaining healthy neuronal function. While the exact way this gene influences Alzheimer's disease is still being researched, scientists are interested in how variations in ASPSCR1 might affect cellular processes that are relevant to brain health. It is important to remember that genetic research is an evolving field. Identifying a gene's involvement in a disease is a complex process that involves looking at how the gene is expressed in different tissues and how it interacts with other biological pathways. Researchers are currently working to understand the functional consequences of this variant to determine if it plays a direct role in the biological mechanisms underlying Alzheimer's disease.
Research Associations and Evidence Strength
The association between rs192423465 and Alzheimer's disease was established through large-scale multi-ancestry studies, including meta-analyses of diverse biobank cohorts. This variant was identified as a novel genome-wide significant locus, indicating that the statistical evidence for its association with the disease is robust within the studied populations. However, the evidence strength is categorized as moderate, reflecting the fact that genetic associations can vary across different ancestral backgrounds and require further validation. Some studies have noted that the effect direction of this variant can be complex, and it has been reproduced in specific sub-cohorts while showing different patterns in others. This highlights the importance of considering ancestry and population structure in genetic research. The scientific community continues to investigate this locus to better understand its role and to ensure that findings are generalizable across diverse groups of people.
What This Information Means for You
Information regarding rs192423465 is derived from population-level statistical research and is intended for educational purposes. It is not a diagnostic tool, and it cannot be used to predict an individual's risk of developing Alzheimer's disease. Genetic variants are only one part of a complex interplay between genetics, environment, and lifestyle. You should not use this information to make medical decisions or to draw conclusions about your personal health. If you have questions about your genetic profile or concerns about your risk for Alzheimer's disease, the best course of action is to speak with a healthcare provider or a genetic counselor. They can help you interpret information in the context of your personal and family medical history. Always prioritize professional medical advice over information found in genetic databases or research publications.
How common is this variant?
The rs192423465 variant is considered rare, appearing at a low frequency across most ancestral populations studied in large biobanks.
Frequently asked questions
Is rs192423465 a cause of Alzheimer's disease?
No, rs192423465 is a genetic variant associated with the disease in statistical studies. It is not a direct cause, and having the variant does not mean a person will develop the condition.
What is a genome-wide significant locus?
A genome-wide significant locus is a specific position in the DNA that shows a strong statistical association with a trait, passing a rigorous threshold used by researchers to minimize false positives.
Can I get tested for this variant?
While some genetic tests may include this variant, it is not a standard clinical test for Alzheimer's disease. You should discuss the utility of any genetic testing with a doctor.
Why is multi-ancestry research important?
Multi-ancestry research is crucial because genetic associations can differ between populations. Including diverse groups ensures that findings are accurate and applicable to a broader range of people.
Sources & further reading
Educational information only, last refreshed 11/7/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs192423465?
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 — $29