rs2228099
Variant in the RAB27A gene (RAB27A, Member RAS Oncogene Family)
rs2228099 is a single nucleotide polymorphism (SNP) in the RAB27A gene, involved in cytotoxic granule secretion. 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 rs2228099 variant?
rs2228099 is a SNP (single nucleotide polymorphism) in the RAB27A (RAB27A, Member RAS Oncogene Family) gene. It belongs to the Adaptive Immunity category and is part of the Adaptive Immunity biological cluster. RAB27A is a small GTPase essential for the peripheral positioning and docking of cytotoxic granules at the immunological synapse. Mutations cause Griscelli syndrome type 2 with hemophagocytic lymphohistiocytosis.
Biological role and pathway
This variant sits within the RAB27A gene, which is involved in the cytotoxic granule secretion 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.
rs2228099 and Long COVID / ME-CFS research
Cytotoxic granule secretion defects impair viral clearance and can cause hemophagocytic syndrome. Hypomorphic RAB27A variants may contribute to impaired NK cell and CTL degranulation efficiency relevant to Long COVID immune dysfunction.
This information is based on published research and does not constitute medical advice. See references below.
Parent gene: RAB27A
rs2228099 is one of 2 known variants in the RAB27A gene. To understand the full biological context of this variant, explore the parent gene page.
View RAB27A gene page →Conditions studied in relation to rs2228099
Research into RAB27A variants including rs2228099 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 RAB27A and the rs2228099 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 RAB27A gene
The following variants in RAB27A are also studied in relation to chronic illness and may be analysed together for a more complete picture.
Frequently asked questions
What is the rs2228099 variant in the RAB27A gene?
rs2228099 is a single nucleotide polymorphism (SNP) located in the RAB27A (RAB27A, Member RAS Oncogene Family) gene, which is involved in cytotoxic granule secretion. RAB27A is a small GTPase essential for the peripheral positioning and docking of cytotoxic granules at the immunological synapse. Mutations cause Griscelli syndrome type 2 with hemophagocytic lymphohistiocytosis.
How may the rs2228099 variant relate to Long COVID or ME/CFS?
Cytotoxic granule secretion defects impair viral clearance and can cause hemophagocytic syndrome. Hypomorphic RAB27A variants may contribute to impaired NK cell and CTL degranulation efficiency relevant to Long COVID immune dysfunction.
Can a consumer DNA test detect the rs2228099 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 rs2228099 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 RAB27A and its variants. This is not an exhaustive literature review.
- [1]PMID: 29287048
- [2]Blood
- [3]Nature Immunology