GJB2 rs111033296: What Your Genotype Means
The rs111033296 variant is a genetic change located within the GJB2 gene. It is studied in the context of autosomal recessive nonsyndromic hearing loss, a condition where hearing impairment occurs without other associated physical symptoms.
What each genotype means
Typical genetic profile
This genotype represents the common, non-variant form of this specific location in the GJB2 gene. It is not associated with the recessive hearing loss conditions linked to this variant.
This is the most common genotype observed in the general population.
Carrier of hearing loss variant
You carry one copy of the variant associated with autosomal recessive nonsyndromic hearing loss. Because this condition is recessive, carrying a single copy typically does not result in hearing loss, but you may be a carrier who could pass this variant to offspring.
This genotype is rare in the general population.
Potential hearing loss association
This genotype indicates the presence of two copies of the variant associated with autosomal recessive nonsyndromic hearing loss. While this variant is linked to hearing loss, clinical expression can be variable; please consult with a genetic counselor or audiologist to discuss what this means for your specific health context.
This genotype is very rare in the general population.
Understanding the SNP and Its Location
The variant rs111033296 is a single nucleotide polymorphism (SNP) situated on chromosome 13 within the GJB2 gene. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. The GJB2 gene is located at the DFNB1 locus, a region well-documented in scientific literature for its critical role in hereditary hearing impairment. Because this variant is located within a gene responsible for essential cellular communication in the inner ear, researchers monitor such sites to understand how specific DNA changes might influence biological function. Genomic databases like dbSNP and ClinVar track this variant to help clinicians and researchers correlate specific genetic signatures with clinical observations reported in medical studies.
The Role of the GJB2 Gene
The GJB2 gene provides the instructions for creating a protein called connexin 26. This protein is a member of the gap junction family, which forms channels that allow small molecules and ions to pass between adjacent cells. In the inner ear, these channels are vital for maintaining the chemical environment necessary for the hair cells to function properly. These hair cells are responsible for converting sound waves into electrical signals that the brain interprets as sound. When the GJB2 gene contains pathogenic mutations, the resulting connexin 26 protein may be non-functional or absent, disrupting the homeostasis of the inner ear. This disruption is a leading cause of congenital, nonsyndromic hearing loss, meaning the hearing impairment is the primary clinical feature and is not part of a broader syndrome.
Research and Evidence Strength
Research into rs111033296 is currently categorized as having limited evidence regarding its clinical impact. While the GJB2 gene itself is a major focus of hearing loss research, not every variant within the gene is confirmed to be pathogenic. Scientific studies often classify variants based on their observed frequency in affected populations versus healthy controls. For rs111033296, the association with hearing loss is noted in clinical databases, but it is important to distinguish between a variant being present and a variant being the definitive cause of a condition. Because hearing loss is genetically heterogeneous—meaning it can be caused by many different genes and variants—clinical interpretation of this specific SNP requires careful analysis by a genetic counselor or medical professional who can look at the full genetic context.
Population Frequency
The rs111033296 variant is considered rare in the general population. Genetic databases indicate that while some GJB2 variants are common in specific ancestral groups, this particular SNP does not appear at high frequencies across broad, diverse populations. Rare variants are often more difficult to study because they appear infrequently in large-scale genomic datasets, which can limit the statistical power of studies attempting to link them to specific health outcomes. Researchers rely on international consortia to aggregate data from thousands of individuals to better understand the distribution of such rare variants across different ethnicities and geographic regions.
Interpreting Your Genetic Information
If you encounter this variant in a personal genetic report, it is essential to understand that this information is for educational purposes and does not constitute a medical diagnosis. Genetic testing results can be complex, and the presence of a variant does not automatically imply that an individual will experience hearing loss. Many factors, including the presence of a second mutation on the other chromosome (as GJB2-related conditions are typically autosomal recessive) and environmental influences, play a role in health outcomes. You should never use this information to make medical decisions or change your healthcare routine. If you have concerns about your hearing or your family history, the most appropriate step is to consult with a clinical geneticist or an audiologist who can provide professional guidance based on your specific clinical history.
How common is this variant?
The rs111033296 variant is classified as rare across most global populations, with limited data available to establish precise frequency estimates.
Frequently asked questions
Is rs111033296 a cause of deafness?
The variant is associated with autosomal recessive nonsyndromic hearing loss, but it is not a definitive cause for everyone. Clinical interpretation depends on the presence of other mutations and the specific genetic context of the individual.
What does 'autosomal recessive' mean for GJB2?
Autosomal recessive means that an individual typically needs to inherit two copies of a pathogenic mutation—one from each parent—to manifest the associated hearing loss. Carriers with only one mutation usually do not experience hearing loss related to that gene.
Should I be worried if I have this variant?
Finding a variant in a report does not mean you have a medical condition. You should discuss any findings with a healthcare provider or a genetic counselor who can interpret the results in the context of your personal and family health history.
Where can I get more information about GJB2?
MedlinePlus Genetics provides comprehensive, plain-language information about the GJB2 gene and its role in health. You can also search the ClinVar database to see how specific variants are classified by clinical laboratories.
Sources & further reading
Educational information only, last refreshed 9/27/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Also known as 35delG, this frameshift mutation is a major cause of autosomal recessive nonsyndromic sensorineural hearing loss.
Pathogenic nonsense variant (p.Trp24Ter) in GJB2, representing one of the major causative alleles for autosomal recessive non-syndromic hearing loss in Mediterranean and South Asian groups.
Missense variant (p.Arg127His) in the GJB2 gene. While often reported in individuals with hearing loss, it is frequently classified as benign or likely benign in clinical databases when found in isolation, as it is common in the general population.
A missense variant (c.109G>A, p.Val37Ile) in GJB2, often identified as a common pathogenic variant associated with mild to moderate autosomal recessive nonsyndromic hearing loss (DFNB1A).
Frameshift deletion (c.235delC) conferring carrier status for autosomal recessive non-syndromic sensorineural hearing loss.
Common East Asian frameshift mutation (c.235delC) causing severe truncation of Connexin 26, a major cause of autosomal recessive nonsyndromic hearing loss.