COL1A1 rs1064796415: What Your Genotype Means
The rs1064796415 variant is a specific genetic change located within the COL1A1 gene. This gene is essential for producing type I collagen, a protein that provides structural support to tissues throughout the human body.
What each genotype means
Common genetic profile
This genotype represents the most frequently observed sequence at this position in the COL1A1 gene. Current research indicates this is a common variant, and there is no established clinical evidence suggesting this specific genotype confers an increased risk for collagen-related disorders or other health conditions.
This is the most common genotype observed in general population databases.
Common genetic profile
This genotype indicates the presence of one copy of each allele at this location. As a common variant, this profile is generally considered part of normal human genetic variation and is not currently linked to specific clinical phenotypes or disease risks in scientific literature.
This genotype is found at varying frequencies across global populations, consistent with common genetic variation.
Common genetic profile
This genotype represents the alternative homozygous state for this variant. Research does not currently associate this specific configuration with any known health predisposition or clinical condition, and it is considered a standard variation within the human genome.
This genotype is observed in the general population as a common variant.
Understanding the rs1064796415 Variant
The rs1064796415 variant is a single nucleotide polymorphism (SNP) situated on chromosome 17. In the context of human genomics, a SNP represents a variation at a single position in the DNA sequence among individuals. This specific variant is cataloged in major genetic databases, including dbSNP and ClinVar, which serve as repositories for researchers to track genetic variations and their potential biological significance. While many SNPs are neutral and have no observable effect on health, others are studied for their potential to influence how genes function or how proteins are constructed. The rs1064796415 variant is currently monitored in clinical genetic research to better understand its presence in the population and its potential relationship with the structural integrity of collagen-based tissues.
The Role of the COL1A1 Gene
The COL1A1 gene provides the instructions necessary for the body to create the alpha-1 chain of type I collagen. Collagen is a family of proteins that act as the primary building blocks for the body's connective tissues. Type I collagen is the most abundant form of this protein in humans and is critical for the strength and support of bone, skin, tendons, cartilage, and the sclera of the eye. Because collagen is so widespread, variations in the COL1A1 gene can have diverse effects on physical health. While some rare, highly impactful mutations in this gene are known to cause conditions like osteogenesis imperfecta, which affects bone fragility, common variants like rs1064796415 are generally studied to see if they contribute to more subtle differences in tissue structure or susceptibility to injury over time.
Research and Evidence Strength
The evidence linking rs1064796415 to specific health outcomes is currently classified as moderate. In genetic research, a moderate evidence strength indicates that while the variant is tracked and observed in clinical databases, it does not have the same level of established, high-impact clinical significance as some other well-characterized mutations. Researchers often use large-scale studies to determine if a variant correlates with specific traits, such as bone mineral density or ligament health. However, it is important to note that genetic associations are often complex and influenced by many factors, including other genes and environmental influences. Because the research on this specific variant is ongoing, it is not currently used as a definitive diagnostic tool. Scientists continue to investigate how this variant might interact with other biological pathways to influence human health.
Interpreting Your Genetic Information
If you have received information about your rs1064796415 genotype, it is important to view it within the context of your overall health and lifestyle. Genetic information is not a medical diagnosis, and the presence of a specific genotype does not guarantee any particular health outcome. Because this variant is common, many people carry it without experiencing any related health issues. You cannot change your genetic code, but you can focus on general health practices that support collagen and bone health, such as maintaining a balanced diet, engaging in appropriate physical activity, and consulting with healthcare professionals for routine screenings. If you have concerns about your bone health or connective tissue, discuss them with your doctor. They can provide personalized advice based on your medical history, physical exams, and other clinical factors that are far more predictive of health than a single genetic variant.
How common is this variant?
The rs1064796415 variant is considered common across various human populations, meaning it is frequently observed in genetic screening data.
Frequently asked questions
What is the COL1A1 gene?
The COL1A1 gene provides instructions for making type I collagen, a protein that provides structural support to bones, skin, and tendons. It is one of the most important genes for maintaining the integrity of connective tissues in the body.
Does having this variant mean I have a disease?
No, having a specific genotype for a common variant like rs1064796415 does not mean you have a disease. Most common genetic variants are normal variations in human DNA and do not cause health conditions on their own.
Should I be worried about my rs1064796415 result?
There is no reason to be worried about this result. It is a common genetic marker that is tracked in research, and it is not used as a diagnostic tool for any specific medical condition.
How can I support my collagen health?
You can support your overall health by maintaining a balanced diet, staying physically active, and avoiding habits that can damage connective tissues, such as smoking. Always consult with a healthcare provider for personalized medical advice.
Sources & further reading
Educational information only, last refreshed 10/8/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant is linked to bone mineral density and fracture risk.
Increases risk for lower bone density and osteoporotic fractures.
A regulatory variant in the Collagen Type I gene associated with bone density and risk of osteoporotic fracture.
This polymorphism is linked to bone mineral density and fracture risk.
An intronic Sp1 transcription factor binding-site variant (often termed the +1245 G/T or Sp1 polymorphism) that influences type I collagen alpha-1 chain synthesis, impacting tendon elasticity, cruciate ligament tear risk, and bone mineral density under mechanical loading.
Regulates Sp1 binding affinity within the COL1A1 regulatory promoter, modulating baseline bone mineral density and connective tissue flexibility traits.