GCDH rs147611168: What Your Genotype Means
The rs147611168 variant is a rare genetic marker located within the GCDH gene. It is primarily associated with carrier status for Glutaric aciduria type I, an inherited metabolic disorder.
What each genotype means
Typical GCDH genotype
This genotype represents the common, non-variant form of the GCDH gene at this position. It is not associated with the carrier status for Glutaric aciduria type I described for this variant.
This is the most common genotype observed in the general population.
Glutaric aciduria type I carrier
This genotype indicates you carry one copy of a variant associated with Glutaric aciduria type I, an autosomal recessive metabolic disorder. As a carrier, you are typically unaffected, but you should discuss the implications of this result with a genetic counselor or physician, especially regarding family planning.
This genotype is rare in the general population.
Glutaric aciduria type I carrier
This genotype indicates you carry one copy of a variant associated with Glutaric aciduria type I, an autosomal recessive metabolic disorder. You are typically unaffected by the condition, but you should consult with a healthcare professional to understand your carrier status and its relevance to your health and family history.
This genotype is rare in the general population.
Understanding the SNP and the GCDH Gene
The variant rs147611168 is a single nucleotide polymorphism (SNP) found within the GCDH gene. This gene is located on chromosome 19 and provides the essential instructions for the body to produce the enzyme glutaryl-CoA dehydrogenase. This enzyme acts within the mitochondria—the energy-producing centers of our cells—where it plays a critical role in breaking down specific amino acids: lysine, hydroxylysine, and tryptophan. When this enzyme functions correctly, these amino acids are safely processed and utilized by the body. However, if the GCDH gene contains certain variants that impair the production or function of this enzyme, the body may struggle to metabolize these amino acids, leading to the accumulation of toxic byproducts. Understanding the location of this SNP helps researchers map how specific changes in the DNA sequence can disrupt the delicate biochemical pathways required for normal cellular metabolism and overall health.
Research and Evidence Associations
Scientific research classifies Glutaric aciduria type I as an autosomal recessive disorder. This means that for an individual to exhibit symptoms of the condition, they must typically inherit two non-functional copies of the GCDH gene—one from each parent. The variant rs147611168 is recognized in clinical databases as a marker associated with this condition. Evidence regarding such variants is evaluated based on their documented impact on protein structure and enzyme activity. While this variant is identified in catalogs as a carrier marker, it is important to note that clinical impact depends on the specific combination of genetic variants an individual carries. Research into these variants helps clinicians and researchers understand the molecular basis of protein loss-of-function and contributes to the broader study of metabolic disorders. Because the evidence strength is categorized as moderate, ongoing clinical studies continue to refine our understanding of how this specific variant influences metabolic health.
Your Genotype and Next Steps
When reviewing your genetic data, you may see your genotype for this variant represented as an allele pair. It is important to remember that genetic information is only one piece of a larger health puzzle. If you are a carrier, you generally do not exhibit the condition, but you may want to discuss the implications of this status with a genetic counselor or healthcare provider, especially if you are planning a family. If your results indicate you carry two copies of the variant, you should discuss these findings with a clinical geneticist or your primary healthcare provider to determine if further diagnostic testing or clinical evaluation is appropriate. Never use genetic reports to self-diagnose or make changes to your medical care. Always consult with a qualified clinician who can interpret these results in the context of your personal and family medical history.
How common is this variant?
The rs147611168 variant is considered rare in the general population. It is not frequently observed in large-scale genetic databases like gnomAD.
Frequently asked questions
What is a carrier?
A carrier is an individual who has one copy of a genetic variant that, when present in two copies, can cause a specific recessive condition. Carriers generally do not show symptoms but can pass the variant to their children.
What is Glutaric aciduria type I?
It is a rare, inherited metabolic disorder where the body cannot properly break down certain amino acids. This leads to a buildup of toxic substances that can affect the brain, particularly the basal ganglia.
How is this condition inherited?
It follows an autosomal recessive pattern. This means a child must inherit two faulty copies of the GCDH gene—one from each parent—to be affected by the disorder.
Should I be concerned if I am a carrier?
Being a carrier is common, as most people carry variants for several recessive conditions. If you are planning a family, you may wish to speak with a genetic counselor to discuss the likelihood of passing this variant on and any available reproductive options.
Sources & further reading
Educational information only, last refreshed 9/14/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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