rs5590
Variant in the KIT gene (KIT Proto-Oncogene, Receptor Tyrosine Kinase)
rs5590 is a single nucleotide polymorphism (SNP) in the KIT gene, involved in stem cell factor signaling. 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 rs5590 variant?
rs5590 is a SNP (single nucleotide polymorphism) in the KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase) gene. It belongs to the Cell Signaling category and is part of the Adaptive Immunity biological cluster. KIT (CD117) is the receptor for stem cell factor (SCF/KitL) that drives mast cell development, survival, and migration. Gain-of-function mutations cause systemic mastocytosis; it is also expressed on hematopoietic stem cells.
Biological role and pathway
This variant sits within the KIT gene, which is involved in the stem cell factor signaling 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.
rs5590 and Long COVID / ME-CFS research
KIT-mediated mast cell activation and proliferation is central to mast cell activation syndrome. Variants affecting KIT signaling may alter mast cell numbers and reactivity in tissues, influencing the mast cell-driven symptoms documented in a subset of Long COVID patients.
This information is based on published research and does not constitute medical advice. See references below.
Parent gene: KIT
rs5590 is one of 2 known variants in the KIT gene. To understand the full biological context of this variant, explore the parent gene page.
View KIT gene page →Conditions studied in relation to rs5590
Research into KIT variants including rs5590 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 KIT and the rs5590 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 KIT gene
The following variants in KIT are also studied in relation to chronic illness and may be analysed together for a more complete picture.
Frequently asked questions
What is the rs5590 variant in the KIT gene?
rs5590 is a single nucleotide polymorphism (SNP) located in the KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase) gene, which is involved in stem cell factor signaling. KIT (CD117) is the receptor for stem cell factor (SCF/KitL) that drives mast cell development, survival, and migration. Gain-of-function mutations cause systemic mastocytosis; it is also expressed on hematopoietic stem cells.
How may the rs5590 variant relate to Long COVID or ME/CFS?
KIT-mediated mast cell activation and proliferation is central to mast cell activation syndrome. Variants affecting KIT signaling may alter mast cell numbers and reactivity in tissues, influencing the mast cell-driven symptoms documented in a subset of Long COVID patients.
Can a consumer DNA test detect the rs5590 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 rs5590 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.
Get Your Personalised DNA ReportInformational and educational only · Not a diagnostic tool · GDPR compliant
References
The following publications were used in compiling the research context for KIT and its variants. This is not an exhaustive literature review.
- [1]PMID: 32359403
- [2]Nature Reviews Cancer
- [3]Journal of Allergy and Clinical Immunology