rs3124591
Variant in the NOTCH1 gene (Notch Receptor 1)
rs3124591 is a single nucleotide polymorphism (SNP) in the NOTCH1 gene, involved in Notch developmental and immune 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 rs3124591 variant?
rs3124591 is a SNP (single nucleotide polymorphism) in the NOTCH1 (Notch Receptor 1) gene. It belongs to the Signaling category and is part of the Cellular Signaling biological cluster. NOTCH1 encodes a transmembrane receptor that regulates T cell development, lymphocyte fate, and vascular morphogenesis.
Biological role and pathway
This variant sits within the NOTCH1 gene, which is involved in the Notch developmental and immune signaling pathway. Genes within the Cellular Signaling 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.
rs3124591 and Long COVID / ME-CFS research
NOTCH1 signaling affects T cell and endothelial biology; variants may influence immune cell differentiation and vascular features of Long COVID.
This information is based on published research and does not constitute medical advice. See references below.
Parent gene: NOTCH1
rs3124591 is one of 1 known variant in the NOTCH1 gene. To understand the full biological context of this variant, explore the parent gene page.
View NOTCH1 gene page →Conditions studied in relation to rs3124591
Research into NOTCH1 variants including rs3124591 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 NOTCH1 and the rs3124591 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 NOTCH1 gene
The following variants in NOTCH1 are also studied in relation to chronic illness and may be analysed together for a more complete picture.
Frequently asked questions
What is the rs3124591 variant in the NOTCH1 gene?
rs3124591 is a single nucleotide polymorphism (SNP) located in the NOTCH1 (Notch Receptor 1) gene, which is involved in Notch developmental and immune signaling. NOTCH1 encodes a transmembrane receptor that regulates T cell development, lymphocyte fate, and vascular morphogenesis.
How may the rs3124591 variant relate to Long COVID or ME/CFS?
NOTCH1 signaling affects T cell and endothelial biology; variants may influence immune cell differentiation and vascular features of Long COVID.
Can a consumer DNA test detect the rs3124591 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 rs3124591 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 NOTCH1 and its variants. This is not an exhaustive literature review.
- [1]PMID: 34316049
- [2]Nature Genetics
- [3]Journal of Clinical Investigation