rs1348797650: Understanding This Rare Intergenic Variant
The variant rs1348797650 is a rare genetic change located in an intergenic region of the human genome. Current scientific data indicates it is extremely uncommon, with limited evidence available regarding any potential biological or clinical associations.
What each genotype means
Common ancestral genotype
This is the most frequently observed genotype for this location in the human genome. Because this variant is intergenic and rare, this genotype is considered the standard baseline for the population. No specific health associations have been established for this configuration.
Carried by the vast majority of the global population, as the alternative allele is extremely rare.
Rare heterozygous variant
You carry one copy of the rare variant at this intergenic position. Current scientific evidence is limited, and there are no known clinical or functional consequences associated with this specific genotype. This finding is considered a rare genomic variation of uncertain significance.
This genotype is extremely rare, appearing in approximately 1 in 40,000 individuals based on current gnomAD population data.
Rare homozygous variant
You carry two copies of the rare variant at this intergenic position. As this variant is located in a non-coding region and lacks established functional data, its clinical relevance remains unknown. There is currently no evidence to suggest this genotype impacts health or disease risk.
This genotype is exceptionally rare and has not been significantly documented in large-scale population databases.
What is rs1348797650?
The identifier rs1348797650 refers to a specific genetic variant cataloged in the dbSNP database. In genomics, an 'rsID' acts as a unique label for a single nucleotide polymorphism or small insertion/deletion. This particular variant is classified as intergenic, meaning it is situated in the DNA sequences located between protein-coding genes. Because it does not reside within a gene that provides instructions for making proteins, it is not typically expected to alter protein structure directly. Instead, researchers study such variants to determine if they might influence how nearby genes are regulated or expressed. As of the latest genomic datasets, this variant is characterized by a very low frequency, making it a subject of interest primarily for large-scale population studies rather than individual clinical assessment.
Genomic Context and Location
The variant rs1348797650 is located on chromosome 16. Genomic analysis, such as that provided by the Ensembl Variant Effect Predictor, indicates that this site falls within regions associated with transcripts for the EIF3C gene. The EIF3C gene encodes a subunit of the eukaryotic translation initiation factor 3 complex, which is essential for the process of protein synthesis within cells. While the variant is categorized as intergenic, its proximity to regulatory or intronic regions of EIF3C means that scientists may investigate whether it has any impact on the stability or expression levels of this gene. However, because the variant is rare, there is currently no established evidence linking it to specific functional changes in EIF3C or any associated health conditions.
Evidence and Research Status
The evidence supporting any functional role for rs1348797650 is currently limited. In the field of human genetics, 'limited evidence' means that while the variant has been identified and documented in large databases like gnomAD, there have been no peer-reviewed studies or large-scale genome-wide association studies (GWAS) that have linked this specific variant to a particular trait, disease, or medication response. Most variants identified in large-scale sequencing projects are considered 'variants of uncertain significance' until further research can demonstrate a clear biological effect. Consequently, this variant is not used in clinical diagnostics or predictive health testing. It remains a data point in the broader effort to map the full spectrum of human genetic diversity, helping researchers understand the baseline of rare variation in the population.
Interpreting Population Frequency
Population frequency is a critical metric in genomics used to distinguish between common variations and rare mutations. According to data from the Genome Aggregation Database (gnomAD) v4.1.1, the allele frequency for rs1348797650 is approximately 0.00001197. This extremely low frequency indicates that the variant is found in only a tiny fraction of the individuals sequenced in these global cohorts. When a variant is this rare, it is often difficult for researchers to determine if it is benign or if it might contribute to rare conditions, as there are few individuals available to study. The rarity of this variant underscores the importance of large, diverse genomic databases, which allow scientists to aggregate data from hundreds of thousands of people to identify these infrequent genetic changes.
What This Information Means for You
If you have encountered this variant in a personal genetic report, it is important to understand that its presence is likely a neutral finding. Because there is no established clinical association for rs1348797650, it does not provide actionable information regarding your health, disease risk, or medication response. Genetic testing results can be complex, and it is common to find many rare variants that have no known impact on health. You should not make any changes to your medical care or lifestyle based on this information. If you have concerns about your genetic profile or family health history, the most appropriate step is to consult with a qualified healthcare provider or a genetic counselor. They can help you interpret your results in the context of your overall health and provide guidance based on validated clinical evidence.
How common is this variant?
The variant rs1348797650 is extremely rare, with an observed allele frequency of 0.00001197 in the gnomAD v4.1.1 dataset.
Frequently asked questions
Is rs1348797650 associated with any diseases?
There is currently no scientific evidence linking rs1348797650 to any specific disease or health condition. It is considered a variant of uncertain significance.
Should I be worried if I have this variant?
No. Because this variant is rare and lacks established clinical associations, it is not considered a cause for concern. Most rare variants identified in genetic testing are neutral.
Where can I find more information about this SNP?
You can look up the variant in public databases like the NCBI dbSNP or the gnomAD browser. These resources provide the most up-to-date frequency and genomic context data.
Does this variant affect how my medications work?
There is no evidence that rs1348797650 affects medication response. Always consult your clinician or pharmacist regarding any questions about your medications.
Sources & further reading
Educational information only, last refreshed 9/15/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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