Understanding rs140428156: A Rare Genetic Variant
The genetic variant rs140428156 is a rare alteration identified in large-scale population studies. It is currently classified as a variant of uncertain significance, meaning its specific impact on human health remains to be determined by ongoing research.
What each genotype means
Typical genetic profile
This genotype represents the most common sequence observed at this location in the general population. Because this variant is rare and evidence regarding its clinical impact is limited, this result is generally considered to be a typical finding.
This is the most common genotype, found in the vast majority of individuals across all global populations.
Rare variant carrier
You carry one copy of the rare T allele at this position. Current scientific evidence for this variant is limited, and it is not currently linked to any specific health conditions or clinical outcomes. This finding should be interpreted as a variant of uncertain significance.
This genotype is very rare, occurring in approximately 1 in 2,000 individuals based on global population data.
Rare homozygous variant
You carry two copies of the rare T allele at this position. There is currently insufficient research to determine if this specific genotype has any biological or clinical effect. As this is a rare finding, it is classified as a variant of uncertain significance.
This genotype is extremely rare, observed in only a single individual in large-scale population reference databases.
What is rs140428156?
The variant rs140428156 is a specific change in the human genome, identified by its reference SNP cluster ID (rsID). In genetic databases, this variant is categorized as an intergenic change, meaning it is located in the DNA sequence between known genes rather than within a gene that codes for a protein. Because it does not sit within a protein-coding region, it is not typically associated with the direct production of a specific biological molecule. Instead, researchers monitor such variants to determine if they might influence how nearby genes are regulated or expressed. As a rare allele, it appears only occasionally in the general population, making it a subject of interest for researchers who study the full spectrum of human genetic diversity. It is important to note that identifying this variant does not imply a specific health outcome, as most intergenic variants have no known effect on physical traits or disease risk.
The Role of Population Databases
Geneticists use large-scale resources like the Genome Aggregation Database (gnomAD) to understand how common or rare a variant is across different ancestral groups. By comparing the frequency of a variant in healthy populations to its presence in individuals with specific conditions, scientists can begin to infer whether a variant might be linked to a disease. For rs140428156, the evidence is currently limited. When a variant is found at a very low frequency, it is often difficult to gather enough statistical power to determine if it is benign or pathogenic. In clinical genetics, this often leads to a classification of 'Variant of Uncertain Significance' (VUS). This label is not a diagnosis; rather, it indicates that the scientific community has not yet collected sufficient evidence to definitively categorize the variant's impact. As more data is collected from diverse populations, our understanding of such rare variants continues to evolve.
Interpreting Genetic Findings
If you have encountered rs140428156 in a genetic report, it is essential to understand that this information is primarily for research and educational purposes. Because the variant is rare and lacks strong evidence linking it to specific clinical conditions, it is not currently used for medical screening or diagnostic decision-making. Genetic testing can reveal millions of variations, and the vast majority of these are harmless differences that make each person unique. You cannot use this information to predict health outcomes or guide medical treatment. If you are concerned about a specific genetic finding, the most appropriate step is to consult with a qualified healthcare provider or a genetic counselor. They can help place your results in the context of your personal and family medical history, ensuring that you receive accurate information rather than relying on isolated data points from a database.
How common is this variant?
The variant rs140428156 is rare, with a global allele frequency of approximately 0.000246, based on data from the Genome Aggregation Database (gnomAD).
Frequently asked questions
What does it mean if a variant is 'intergenic'?
An intergenic variant is located in the DNA sequence between genes. Because it is not inside a gene, it does not directly alter the structure of a protein, though it may potentially influence how genes are turned on or off.
Is rs140428156 associated with a specific disease?
Currently, there is no established clinical association between rs140428156 and any specific disease. It is classified as a variant of uncertain significance, meaning research has not yet determined if it has any impact on health.
Should I be worried if I have this variant?
No. Most genetic variants are harmless, and because this variant is rare and lacks clinical evidence, it is not considered a cause for concern. You should discuss any specific health questions with your doctor.
Why is this variant called a VUS?
VUS stands for Variant of Uncertain Significance. It is a standard term used by geneticists when there is not enough scientific evidence to classify a variant as either benign or pathogenic.
Sources & further reading
Educational information only, last refreshed 9/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs140428156?
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
This variant is associated with 5-alpha-reductase 2 deficiency, which can cause atypical sexual development in males.
This variant in the CDH23 gene is associated with autosomal recessive deafness 12.
This variant (commonly referred to as N370S or p.Asn409Ser) is the most frequent cause of Type 1 Gaucher disease and significantly increases lifetime risk for Parkinson disease.
Pathogenic missense variant causing biotinidase deficiency, a recessive metabolic disorder, making single-copy carriers important for reproductive genetic screening.
This polymorphism in the thioredoxin reductase 2 gene has been identified as a potential genetic marker associated with the risk of diabetic retinopathy in patients with Type 2 diabetes.
Indicates carrier status for malignant hyperthermia susceptibility type 1 and recessive RYR1-related central core disease.
