CASR rs193922444: What Your Genotype Means
The rs193922444 variant is a specific genetic change located within the CASR gene. This gene encodes the calcium-sensing receptor, a protein essential for monitoring and maintaining healthy calcium levels in the blood.
What each genotype means
Typical calcium sensing
This is the common, reference genotype for the CASR gene. It is associated with normal function of the calcium-sensing receptor protein, which helps the body maintain appropriate blood calcium levels.
This is the most common genotype found in the general population.
Potential calcium regulation variant
This genotype indicates the presence of one copy of the A allele. Research has linked this specific variant to familial hypocalciuric hypercalcemia, a condition that can affect how the body regulates calcium; however, clinical significance can vary, and you should discuss any relevant blood test results with your healthcare provider.
This genotype is rare in the general population.
Associated with calcium regulation
This genotype indicates the presence of two copies of the A allele. This variant is classified as potentially pathogenic in clinical databases in relation to familial hypocalciuric hypercalcemia, a condition characterized by altered calcium sensing; please consult with a medical professional to interpret this in the context of your personal health history.
This genotype is very rare in the general population.
Understanding the CASR Gene
The CASR gene provides the blueprint for the calcium-sensing receptor (CaSR), a protein that acts as a biological thermostat for calcium. Located primarily on the surface of cells in the parathyroid glands and the kidneys, this receptor is a G protein-coupled receptor that detects minute fluctuations in extracellular calcium concentrations. When calcium levels rise, the CaSR protein binds to these calcium ions, triggering a signaling cascade that inhibits the release of parathyroid hormone. This process is vital because parathyroid hormone is responsible for raising blood calcium levels; by suppressing it, the body prevents calcium from reaching dangerously high levels. In the kidneys, the receptor also helps manage how much calcium is reabsorbed into the bloodstream versus how much is excreted in urine. Because of its central role in mineral homeostasis, the CASR gene is a primary focus for researchers studying calcium-related metabolic disorders.
What is the rs193922444 Variant?
The rs193922444 variant is a single nucleotide polymorphism (SNP) situated within the CASR gene. In genomics, a SNP represents a variation at a single position in the DNA sequence among individuals. While many SNPs are benign and have no observable effect on health, others may alter the structure or expression of the protein they encode. The rs193922444 variant is cataloged in public databases as a genetic marker of interest within the CASR locus. Researchers study such variants to determine if they correlate with differences in how efficiently the calcium-sensing receptor functions or how it responds to physiological signals. Because this variant is located in a gene critical for mineral balance, it is categorized under health predisposition research. It is important to note that the presence of a specific SNP does not automatically imply a clinical condition, as many factors, including other genetic markers and environmental influences, contribute to overall health.
Research and Evidence Strength
The evidence linking rs193922444 to specific health outcomes is currently classified as moderate. Scientific research into CASR variants often involves genome-wide association studies (GWAS) that look for correlations between genetic markers and serum calcium levels in large populations. While some variants in the CASR gene are well-documented to cause rare Mendelian disorders—such as familial hypocalciuric hypercalcemia or autosomal dominant hypocalcemia—rs193922444 is typically investigated for its potential, more subtle influence on calcium homeostasis in the general population. Current literature suggests that common genetic variation in this gene can account for small differences in baseline serum calcium concentrations. However, the functional impact of this specific variant remains an area of active study. Because the evidence is moderate, it is not currently used as a standalone diagnostic tool. Researchers continue to analyze how this variant interacts with other genetic and lifestyle factors to influence long-term metabolic health.
Population Frequency and Interpretation
Genetic variants like rs193922444 are distributed differently across global populations. To understand the frequency of this variant, researchers consult large-scale genomic databases such as gnomAD, which aggregate data from diverse ancestral groups. Frequency data is essential for determining whether a variant is common or rare within a specific population. If you are interested in your own genetic data, it is important to remember that population frequency is a statistical observation, not a personal medical prediction. A variant that is common in one group may be rare in another, and these frequencies do not dictate individual health outcomes. Because the clinical significance of rs193922444 is still being refined by the scientific community, this information should be viewed as educational. It is not a substitute for professional medical advice, and any concerns regarding your calcium levels or metabolic health should be discussed with a qualified healthcare provider who can interpret your results in the context of your full medical history.
How common is this variant?
The frequency of the rs193922444 variant varies significantly across different ancestral populations. Users should consult the gnomAD database for the most current, population-specific allele frequency data.
Frequently asked questions
What does the CASR gene do?
The CASR gene provides instructions for making the calcium-sensing receptor, which acts as a sensor to monitor and regulate calcium levels in the blood.
Is rs193922444 a disease-causing mutation?
The rs193922444 variant is a genetic marker associated with the CASR gene. It is not classified as a direct cause of disease, but rather a variant studied for its potential influence on calcium homeostasis.
Should I be worried about my rs193922444 genotype?
No. Genetic variants are common, and most do not have a significant impact on health. You should discuss any concerns about your calcium levels with your doctor.
Where can I find more information on this variant?
You can search for rs193922444 on the NCBI dbSNP database or the GWAS Catalog to see the latest research and clinical associations.
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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Get my report — $29Related variants in CASR
Variant in the CASR gene, which encodes the calcium-sensing receptor critical for systemic calcium homeostasis.
Variants in CASR are associated with calcium homeostasis disorders, including familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia.
Variant in the CASR gene involved in the regulation of the calcium-sensing receptor.
Variant in the CASR gene associated with altered calcium-sensing receptor sensitivity and regulation of parathyroid hormone secretion.
Pathogenic missense variant causing familial hypocalciuric hypercalcemia type 1 (FHH1).