rs2057482

What is the rs2057482 variant?

rs2057482 is a SNP (single nucleotide polymorphism) in the HIF1A (Hypoxia Inducible Factor 1 Subunit Alpha) gene. It belongs to the Signaling category and is part of the Mitochondrial Energy Production & PEM biological cluster. HIF1A encodes the oxygen-sensitive alpha subunit of HIF-1, the master transcription factor for the cellular hypoxia response.

Biological role and pathway

This variant sits within the HIF1A gene, which is involved in the hypoxia response / angiogenesis / glycolysis 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.

Parent gene: HIF1A

rs2057482 is one of 2 known variants in the HIF1A gene. To understand the full biological context of this variant, explore the parent gene page.

Conditions studied in relation to rs2057482

Research into HIF1A variants including rs2057482 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 HIF1A and the rs2057482 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 HIF1A gene

The following variants in HIF1A are also studied in relation to chronic illness and may be analysed together for a more complete picture.

Frequently asked questions