RYR1 rs118192155: Understanding This Genetic Variant
The rs118192155 variant is a specific change located within the RYR1 gene, which provides instructions for a critical calcium-regulating protein in skeletal muscle. This variant is frequently referenced in clinical and consumer genomics databases, though its specific functional impact remains a subject of ongoing research.
What each genotype means
Common reference genotype
This is the most common genotype observed in the general population for this location in the RYR1 gene. It is considered the reference sequence and is not associated with the specific pathogenic conditions linked to the alternative allele.
This is the predominant genotype found across all major global populations.
Heterozygous carrier status
Carrying one copy of the A allele at this position has been identified in clinical databases as a pathogenic variant. Because RYR1-related conditions can be inherited in an autosomal dominant manner, you should discuss these findings with a medical geneticist or clinician to understand if this result is relevant to your personal health history.
This genotype is rare in the general population and is typically identified in clinical settings.
Homozygous variant genotype
This genotype involves two copies of the A allele, which is classified as pathogenic in clinical databases. This variant is associated with RYR1-related myopathies, such as central core disease; please consult with a healthcare professional to discuss the clinical implications of this result.
This genotype is extremely rare and is generally only observed in individuals undergoing clinical genetic evaluation.
What is rs118192155?
The identifier rs118192155 refers to a single nucleotide polymorphism (SNP) located within the RYR1 gene. In genomics, an rsID (reference SNP cluster ID) is a unique label assigned by the National Center for Biotechnology Information (NCBI) to help researchers track specific variations in the human genome. This variant represents a position where the DNA sequence can differ between individuals. Because the human genome is vast, these markers act as signposts that scientists use to study how specific genetic changes might influence biological traits or health conditions. It is important to note that the presence of a variant does not automatically imply a health outcome; rather, it is a data point that requires context from clinical studies and functional research to understand its potential significance.
The Role of the RYR1 Gene
The RYR1 gene encodes the ryanodine receptor 1 protein, which is essential for muscle function. This protein acts as a calcium release channel located in the sarcoplasmic reticulum, a specialized structure within muscle cells. By controlling the release of calcium ions, the RYR1 channel triggers the muscle contractions necessary for movement. Because of its central role in muscle physiology, mutations in this gene are well-documented in medical literature. They are primarily associated with conditions such as malignant hyperthermia susceptibility, central core disease, and various congenital myopathies. Research into RYR1 is extensive because the protein's function is highly sensitive to structural changes. When the channel does not function correctly, it can lead to issues with calcium homeostasis, which may manifest as muscle weakness or abnormal reactions to certain anesthetic agents.
Research and Evidence Strength
The evidence linking rs118192155 to specific clinical outcomes is currently categorized as moderate. In the context of genetic research, 'moderate' evidence suggests that while the variant is frequently observed and documented in databases like ClinVar, there may be conflicting reports or a lack of definitive, large-scale studies confirming its exact clinical impact. Genetic variants in RYR1 are known for high allelic heterogeneity, meaning that different changes in the same gene can lead to a wide spectrum of clinical presentations. Some variants are clearly pathogenic, while others are classified as variants of uncertain significance (VUS). Because of this complexity, researchers often look at the broader genetic landscape of an individual rather than relying on a single SNP to predict health outcomes. Always consult with a medical professional or a genetic counselor to interpret how specific variants might relate to your personal health history.
Population Frequency
The frequency of genetic variants can vary significantly across different ancestral populations. According to data found in clinical databases, rs118192155 is considered a common variant in the context of ClinVar submissions. However, 'common' in a database does not necessarily mean it is common in the general global population. Genomic databases often aggregate data from individuals undergoing clinical testing, which can create a bias toward certain populations or health conditions. Understanding the frequency of a variant is a key step in determining its potential impact, as rare variants are more likely to have strong, deleterious effects, while common variants are often benign. Researchers use tools like gnomAD to compare the frequency of variants across diverse groups to better understand their evolutionary history and potential clinical relevance.
Interpreting Your Genetic Information
If you have encountered rs118192155 in a personal genetic report, it is important to approach the information with caution. Genetic testing results are not a substitute for a clinical diagnosis. Many variants that appear in consumer reports are benign or have no known effect on health. If you are concerned about muscle health or have a family history of conditions related to RYR1, such as malignant hyperthermia, the most appropriate step is to discuss these findings with a healthcare provider or a certified genetic counselor. They can help place your results in the context of your overall health, family history, and clinical symptoms. Never make changes to your medical care or medication regimen based solely on a genetic report without professional guidance. A clinician can determine if further diagnostic testing is necessary to provide a clear and accurate assessment of your health.
How common is this variant?
The rs118192155 variant is documented as a common entry within ClinVar, though its specific frequency varies across different ancestral groups.
Frequently asked questions
Is rs118192155 a disease-causing mutation?
The clinical significance of rs118192155 is currently classified as having moderate evidence. It is not automatically considered disease-causing, and its impact may depend on other genetic and environmental factors.
Should I be worried if I have this variant?
Finding a variant in your genetic report does not mean you have a medical condition. You should discuss your results with a doctor or genetic counselor who can interpret them in the context of your personal health.
Does this variant affect my response to anesthesia?
While some RYR1 variants are associated with malignant hyperthermia, a reaction to anesthesia, you should never assume your risk based on a single SNP. Always inform your anesthesiologist of your family history and any known genetic risks before surgery.
Where can I find more information about RYR1?
You can find reliable information about the RYR1 gene and its associated conditions on resources like MedlinePlus Genetics and the NCBI Gene database. These sites provide peer-reviewed summaries of gene function and clinical associations.
Sources & further reading
Educational information only, last refreshed 10/2/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs118192155?
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 in RYR1
Pathogenic missense variant (p.Arg614Cys) associated with malignant hyperthermia susceptibility.
Indicates carrier status for malignant hyperthermia susceptibility type 1 and recessive RYR1-related central core disease.
Well-characterized gain-of-function missense variant predisposing carriers to malignant hyperthermia crisis triggered by volatile inhaled anesthetics.
This pathogenic variant is linked to Central core disease, a congenital myopathy.