rs2790341
Variant in the EGLN1 gene (Egl-9 Family Hypoxia Inducible Factor 1 (PHD2))
rs2790341 is a single nucleotide polymorphism (SNP) in the EGLN1 gene, involved in HIF prolyl hydroxylase / oxygen sensing. 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 rs2790341 variant?
rs2790341 is a SNP (single nucleotide polymorphism) in the EGLN1 (Egl-9 Family Hypoxia Inducible Factor 1 (PHD2)) gene. It belongs to the Signaling category and is part of the Mitochondrial Energy Production & PEM biological cluster. EGLN1 encodes PHD2, the primary prolyl hydroxylase that targets HIF-alpha for oxygen-dependent degradation.
Biological role and pathway
This variant sits within the EGLN1 gene, which is involved in the HIF prolyl hydroxylase / oxygen sensing pathway. Genes within the Mitochondrial Energy Production & PEM 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.
rs2790341 and Long COVID / ME-CFS research
PHD2 is the molecular oxygen sensor for HIF activation; variants affecting PHD2 activity may alter the threshold for HIF activation and the hypoxic response in Long COVID.
This information is based on published research and does not constitute medical advice. See references below.
Parent gene: EGLN1
rs2790341 is one of 2 known variants in the EGLN1 gene. To understand the full biological context of this variant, explore the parent gene page.
View EGLN1 gene page →Conditions studied in relation to rs2790341
Research into EGLN1 variants including rs2790341 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 EGLN1 and the rs2790341 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 EGLN1 gene
The following variants in EGLN1 are also studied in relation to chronic illness and may be analysed together for a more complete picture.
Frequently asked questions
What is the rs2790341 variant in the EGLN1 gene?
rs2790341 is a single nucleotide polymorphism (SNP) located in the EGLN1 (Egl-9 Family Hypoxia Inducible Factor 1 (PHD2)) gene, which is involved in HIF prolyl hydroxylase / oxygen sensing. EGLN1 encodes PHD2, the primary prolyl hydroxylase that targets HIF-alpha for oxygen-dependent degradation.
How may the rs2790341 variant relate to Long COVID or ME/CFS?
PHD2 is the molecular oxygen sensor for HIF activation; variants affecting PHD2 activity may alter the threshold for HIF activation and the hypoxic response in Long COVID.
Can a consumer DNA test detect the rs2790341 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 rs2790341 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 EGLN1 and its variants. This is not an exhaustive literature review.
- [1]PMID: 34316049
- [2]Nature Genetics
- [3]Cell