rs2270435
Variant in the COL6A1 gene (Collagen Type VI Alpha 1 Chain)
rs2270435 is a single nucleotide polymorphism (SNP) in the COL6A1 gene, involved in extracellular matrix / muscle integrity. 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 rs2270435 variant?
rs2270435 is a SNP (single nucleotide polymorphism) in the COL6A1 (Collagen Type VI Alpha 1 Chain) gene. It belongs to the Connective Tissue category and is part of the Coagulation & Microcirculation biological cluster. COL6A1 encodes type VI collagen, an important component of connective tissue sheaths surrounding muscle and tendons.
Biological role and pathway
This variant sits within the COL6A1 gene, which is involved in the extracellular matrix / muscle integrity pathway. Genes within the Coagulation & Microcirculation 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.
rs2270435 and Long COVID / ME-CFS research
COL6A1 variants affect muscle connective tissue integrity; they are associated with Bethlem myopathy, and connective tissue variants may contribute to muscle symptoms in Long COVID.
This information is based on published research and does not constitute medical advice. See references below.
Parent gene: COL6A1
rs2270435 is one of 1 known variant in the COL6A1 gene. To understand the full biological context of this variant, explore the parent gene page.
View COL6A1 gene page →Conditions studied in relation to rs2270435
Research into COL6A1 variants including rs2270435 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 COL6A1 and the rs2270435 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 COL6A1 gene
The following variants in COL6A1 are also studied in relation to chronic illness and may be analysed together for a more complete picture.
Frequently asked questions
What is the rs2270435 variant in the COL6A1 gene?
rs2270435 is a single nucleotide polymorphism (SNP) located in the COL6A1 (Collagen Type VI Alpha 1 Chain) gene, which is involved in extracellular matrix / muscle integrity. COL6A1 encodes type VI collagen, an important component of connective tissue sheaths surrounding muscle and tendons.
How may the rs2270435 variant relate to Long COVID or ME/CFS?
COL6A1 variants affect muscle connective tissue integrity; they are associated with Bethlem myopathy, and connective tissue variants may contribute to muscle symptoms in Long COVID.
Can a consumer DNA test detect the rs2270435 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 rs2270435 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 COL6A1 and its variants. This is not an exhaustive literature review.
- [1]PMID: 33141942
- [2]Nature Genetics
- [3]Neuromuscular Disorders