SMIM30 rs1006437246: What Your Genotype Means
The genetic variant rs1006437246 is a specific change in the human genome located near the SMIM30 gene. It has been identified in large-scale genomic studies as being associated with an increased risk of sleep apnea syndrome.
What each genotype means
Typical risk profile
This genotype represents the common, non-risk allele at this position. Research indicates that individuals with this genotype do not carry the specific variant associated with increased sleep apnea risk in this study. Please note that sleep apnea is a complex condition influenced by many genetic and environmental factors.
This is the most common genotype observed in the general population.
Increased risk association
This genotype includes one copy of the variant associated with an increased risk of sleep apnea syndrome in published genome-wide association studies. Because this is a complex trait, carrying this genotype does not mean you will develop the condition, as many other factors contribute to sleep health. You should discuss any concerns about sleep quality or breathing with a healthcare professional.
This genotype is rare in the general population.
Elevated risk association
This genotype includes two copies of the variant associated with an increased risk of sleep apnea syndrome. Current evidence is limited and based on statistical associations, meaning this finding should be interpreted with caution as it does not account for all genetic or lifestyle influences on sleep. Please consult with a clinician if you have concerns regarding your sleep health.
This genotype is very rare in the general population.
Understanding the Variant
The variant rs1006437246 is a single nucleotide polymorphism, or SNP, which represents a variation at a single position in the DNA sequence. In the context of human genetics, SNPs are the most common type of genetic variation. This specific variant is located on chromosome 7 at position 113,747,701. It is often studied in the context of genome-wide association studies (GWAS), which look for correlations between specific genetic markers and complex health traits. Because this variant is considered rare, it is not found in the majority of the population, making it a subject of interest for researchers trying to understand the underlying genetic architecture of sleep-disordered breathing. Genomic locations like this are mapped by scientists to help identify regions of the genome that may influence how our bodies function or how we respond to environmental factors.
The Role of SMIM30
The variant rs1006437246 is mapped to the SMIM30 gene, also known as Small Integral Membrane Protein 30. While the exact biological function of SMIM30 is still being characterized by the scientific community, genes in this category often encode proteins that reside within cell membranes. These proteins can play roles in cellular signaling, transport, or structural integrity. In the context of sleep apnea, researchers are interested in whether variations in or near this gene might influence physiological pathways related to respiratory control or airway stability during sleep. It is important to note that being mapped to a gene does not necessarily mean the variant directly alters the protein produced by that gene; it may instead influence how the gene is regulated or expressed in specific tissues. Further functional studies are required to determine the precise mechanism by which this genetic region might contribute to sleep-related traits.
Research and Evidence
The association between rs1006437246 and sleep apnea syndrome was highlighted in large-scale research, such as the NHLBI Trans-Omics for Precision Medicine (TOPMed) program. This study utilized whole-genome sequencing to identify rare-variant associations with objectively measured sleep-disordered breathing traits. The evidence for this specific SNP is categorized as limited, meaning that while a statistical association has been observed in large cohorts, the clinical significance and the biological pathway remain areas of active investigation. GWAS findings provide a starting point for understanding complex diseases, but they do not establish a direct cause-and-effect relationship. Because sleep apnea is a multifactorial condition influenced by genetics, lifestyle, and anatomy, this variant should be viewed as one small piece of a much larger, complex puzzle rather than a definitive diagnostic marker for the condition.
Population Frequency
The variant rs1006437246 is classified as rare in the general population. In genomic databases, rare variants are those that appear at a very low frequency across diverse ancestral groups. Because of its rarity, most individuals will not carry the risk allele associated with this SNP. The frequency of such variants can vary significantly between different populations, and current research is focused on ensuring that genomic studies include diverse cohorts to better understand how these associations hold up across different ancestries. If you are interested in your own genetic profile, it is important to remember that population-level statistics describe groups, not individuals. The presence or absence of a rare variant does not determine your health outcome, as many other genetic and environmental factors contribute to the development of sleep apnea.
Managing Your Information
If you have received information about your status for rs1006437246, it is essential to interpret it within the context of your overall health. This information is for educational purposes and should not be used to diagnose or treat any medical condition. Sleep apnea is a serious health concern that is typically diagnosed through clinical evaluation and objective sleep studies, such as polysomnography. You cannot use this genetic information to predict whether you will develop sleep apnea or to determine the severity of the condition. If you have concerns about your sleep quality, snoring, or daytime fatigue, please consult a healthcare professional. They can provide appropriate screening and discuss evidence-based management strategies. Never make changes to your health or medical care based on genetic data without first speaking with a qualified clinician or a genetic counselor who can help you understand the clinical relevance of your results.
How common is this variant?
The variant rs1006437246 is considered rare across global populations, meaning the risk allele is found in only a small fraction of individuals.
Frequently asked questions
Does having the rs1006437246 variant mean I have sleep apnea?
No. This variant is associated with an increased risk in a statistical sense, but it is not a diagnostic test. Sleep apnea is a complex condition influenced by many genetic and environmental factors.
What should I do if I carry this variant?
You should continue to focus on healthy lifestyle habits and discuss any concerns about your sleep with your doctor. Genetic variants are only one part of your overall health profile and do not dictate your medical future.
Is this variant a reliable predictor of sleep apnea?
Current evidence for this variant is limited. It is not used in clinical practice to predict or diagnose sleep apnea, as its effect size is small and the condition is multifactorial.
Where can I get more information about my sleep health?
The best source for information about your sleep health is a primary care physician or a sleep specialist. They can order appropriate clinical tests if you are experiencing symptoms.
Sources & further reading
Educational information only, last refreshed 10/11/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs1006437246?
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