rs10830046
Variant in the TPSAB1 gene (Tryptase Alpha/Beta 1)
rs10830046 is a single nucleotide polymorphism (SNP) in the TPSAB1 gene, involved in mast cell degranulation. Variants at this position have been studied in relation to immune function, metabolism, and chronic illness.
This page is for educational and informational purposes only. Not a diagnostic tool. Always consult a qualified healthcare provider.
What is the rs10830046 variant?
rs10830046 is a SNP (single nucleotide polymorphism) in the TPSAB1 (Tryptase Alpha/Beta 1) gene. It belongs to the Adaptive Immunity category and is part of the Adaptive Immunity biological cluster. TPSAB1 encodes mast cell tryptase, the most abundant protein in mast cell secretory granules. Hereditary alpha-tryptasemia (HαT) from TPSAB1 copy number gains causes systemic mast cell activation symptoms.
Biological role and pathway
This variant sits within the TPSAB1 gene, which is involved in the mast cell degranulation pathway. Genes within the Adaptive Immunity cluster work together to maintain balanced function across interconnected biological systems.
Variants in genes within this pathway may influence an individual's predisposition to altered function — particularly under conditions of physiological stress such as viral infection or prolonged illness.
rs10830046 and Long COVID / ME-CFS research
Hereditary alpha-tryptasemia (HαT) is a genetic risk factor for mast cell activation syndrome and is found at elevated frequency in Long COVID patients. TPSAB1 copy number variations and baseline tryptase levels may identify patients with mast cell-driven Long COVID manifestations.
This information is based on published research and does not constitute medical advice. See references below.
Parent gene: TPSAB1
rs10830046 is one of 2 known variants in the TPSAB1 gene. To understand the full biological context of this variant, explore the parent gene page.
View TPSAB1 gene page →Conditions studied in relation to rs10830046
Research into TPSAB1 variants including rs10830046 has explored associations with the following conditions. These are areas of scientific investigation and do not imply causation.
Genetic insights from DNA data
Consumer DNA files from 23andMe, AncestryDNA, and MyHeritage contain raw SNP data. When you upload your file to ChronicDNA, the analysis engine checks your genotype against a curated panel of 80+ genes selected for their relevance to Long COVID, ME/CFS, and connected biological pathways - some of which may include TPSAB1 and the rs10830046 variant.
The report is educational - it explains which variants you carry, what the research says about them, and how they fit into the biological pathways most relevant to chronic illness. Results are presented in plain English with appropriate scientific context, no medical jargon, no scare tactics. All results should be discussed with a qualified healthcare provider.
Other variants in the TPSAB1 gene
The following variants in TPSAB1 are also studied in relation to chronic illness and may be analysed together for a more complete picture.
Frequently asked questions
What is the rs10830046 variant in the TPSAB1 gene?
rs10830046 is a single nucleotide polymorphism (SNP) located in the TPSAB1 (Tryptase Alpha/Beta 1) gene, which is involved in mast cell degranulation. TPSAB1 encodes mast cell tryptase, the most abundant protein in mast cell secretory granules. Hereditary alpha-tryptasemia (HαT) from TPSAB1 copy number gains causes systemic mast cell activation symptoms.
How may the rs10830046 variant relate to Long COVID or ME/CFS?
Hereditary alpha-tryptasemia (HαT) is a genetic risk factor for mast cell activation syndrome and is found at elevated frequency in Long COVID patients. TPSAB1 copy number variations and baseline tryptase levels may identify patients with mast cell-driven Long COVID manifestations.
Can a consumer DNA test detect the rs10830046 variant?
Many consumer DNA tests such as 23andMe, AncestryDNA, and MyHeritage genotype common SNPs. ChronicDNA analyses your raw DNA file and reports on variants studied in relation to chronic illness, immune function, and metabolism. This is not a diagnostic service — results are informational and educational only.
Find out if you carry the rs10830046 variant
Upload your DNA data from 23andMe, AncestryDNA, or MyHeritage and receive a personalised report covering >80 genes relevant to Long COVID and ME/CFS.
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References
The following publications were used in compiling the research context for TPSAB1 and its variants. This is not an exhaustive literature review.
- [1]PMID: 34517560
- [2]New England Journal of Medicine
- [3]Journal of Allergy and Clinical Immunology