ATP1B2 rs55831773: What Your Genotype Means
rs55831773 is a single-nucleotide genetic variant located in a splice region of the ATP1B2 gene on chromosome 17. Multi-ancestry genome-wide association studies have linked the minor allele of this variant to a modest statistical increase in the risk of laryngeal cancer. Because overall evidence remains limited and effect sizes are small, it serves as a research finding rather than a personal diagnostic tool.
What each genotype means
Typical risk profile
This genotype represents the most common genetic sequence observed at this position in the ATP1B2 gene. Research indicates this is the baseline state, and individuals with this profile do not carry the specific variant associated with increased laryngeal cancer risk in multi-ancestry studies.
This is the most frequent genotype globally, found in the vast majority of individuals across all major ancestral populations.
Increased risk association
This genotype includes one copy of the variant associated with a potential increase in laryngeal cancer risk. Because the evidence for this association is limited and derived from multi-ancestry meta-analyses, this result should be interpreted with caution and not as a diagnostic indicator. Please consult with a healthcare professional regarding any personal or family health concerns.
Carried by a small percentage of the population, consistent with a global minor allele frequency of approximately 2% to 5%.
Elevated risk association
This genotype includes two copies of the variant associated with a potential increase in laryngeal cancer risk. Current evidence for this association is limited, and the clinical significance remains under investigation. This finding does not constitute a medical diagnosis; please discuss your health history and any concerns with a qualified clinician.
This genotype is rare, occurring at a frequency consistent with the low global prevalence of the minor allele.
Genomic Location and Variant Characteristics
The variant rs55831773 is mapped to chromosome 17 near the ATP1B2 gene, in close physical proximity to the well-known tumor suppressor gene TP53. It is classified as a splice-region variant, meaning it resides near the junction where exons are stitched together and introns are removed during RNA processing. Changes in splice regions can occasionally alter how an RNA transcript is assembled, potentially impacting the abundance or structure of the final protein. Genetic researchers frequently evaluate splice-site polymorphisms because subtle shifts in RNA maturation can influence cell physiology without causing overt protein destruction. While rs55831773 sits near other critical genomic loci on 17p, conditional analyses confirm that its statistical signals behave independently of neighboring variations.
The Biological Function of ATP1B2
The ATP1B2 gene encodes the beta-2 subunit of the sodium-potassium transporting ATPase enzyme complex (Na+/K+-ATPase). This enzyme is vital for maintaining electrochemical gradients across cellular membranes by pumping sodium ions out of the cell and potassium ions in, coupled with the breakdown of cellular ATP. The beta-2 subunit is a non-catalytic glycoprotein essential for the assembly, maturation, and membrane targeting of the enzyme complex, and it also plays roles in neural adhesion and cell communication. Disruptions in ion homeostasis and membrane transport mechanisms can alter cellular stress responses, cell-cycle regulation, and survival pathways, which has led oncology researchers to study how subtle variations in ATP1B2 function might modify tissue susceptibility to malignant transformation.
Association with Laryngeal Cancer and Evidence Strength
In large-scale, cross-ancestral genome-wide association studies evaluating head and neck cancer subsites, rs55831773 emerged as a notable locus for laryngeal cancer risk. A multi-ancestry meta-analysis identified the variant as being statistically associated with laryngeal cancer with an odds ratio of approximately 1.21, meeting rigorous genome-wide significance thresholds. Fine-mapping and conditional analyses demonstrated that this association is independent of nearby variations in the TP53 gene. Nonetheless, current evidence is rated as limited: this represents a modest relative risk increase rather than a deterministic disease driver. Further functional studies are required to establish whether the variant directly impacts ATP1B2 splicing or merely travels alongside another functional variant.
How to Interpret This Information
It is critical to distinguish between a statistical risk factor identified in research cohorts and a clinical diagnosis. Carrying an allele associated with an odds ratio of 1.21 does not mean that an individual will develop laryngeal cancer; the vast majority of people with this variant never develop the condition. Conversely, having the typical genotype does not confer immunity. Laryngeal cancer is overwhelmingly driven by environmental and lifestyle risk factors, particularly prolonged tobacco exposure, heavy alcohol consumption, and certain viral infections. Genetic variants of this nature provide insight into the biology of cancer development across populations, but they do not warrant specialized medical screening or preventive medical procedures on their own.
How common is this variant?
According to large population resources such as gnomAD, rs55831773 is a low-frequency to common variant, with a global minor allele frequency generally observed between 2% and 5% (MAF ~0.02 - 0.05) across multiple continental ancestries.
Frequently asked questions
Does having the rs55831773 risk allele mean I will get laryngeal cancer?
No. The variant confers only a small statistical increase in relative risk (an odds ratio of roughly 1.21), and the vast majority of carriers never develop laryngeal cancer. Major lifestyle factors, particularly smoking and alcohol intake, play a far larger role in overall risk.
What does a splice variant mean?
A splice variant is a genetic change that occurs near the boundary of an exon and an intron. These changes have the potential to alter how the cell edits its RNA transcripts into mature messenger RNA, though many splice-region variants have mild or neutral biological effects.
Is rs55831773 related to mutations in the TP53 gene?
Although the ATP1B2 gene is physically located near TP53 on chromosome 17, research studies used conditional analyses to show that the association between rs55831773 and laryngeal cancer is statistically independent of TP53 variants.
Can doctors test for rs55831773 to screen for cancer?
No, clinical guidelines do not recommend testing for rs55831773 as a diagnostic or routine screening measure. Because its contribution to individual disease risk is so modest, standard preventive health measures and avoidance of known carcinogens remain the standard of care.
Sources & further reading
Educational information only, last refreshed 9/7/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs55831773?
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