rs397514442: Understanding This Rare Genetic Variant
The variant rs397514442 is a rare genetic change located within the HSD3B7 gene. It has been identified in clinical research as being associated with congenital bile acid synthesis defects.
What each genotype means
Typical bile acid synthesis
This genotype represents the common, non-pathogenic sequence at this location in the HSD3B7 gene. It is considered the reference state in population databases and is not associated with the bile acid synthesis defects linked to this variant.
This is the most common genotype observed in the general population.
Potential carrier status
This genotype indicates the presence of one copy of the pathogenic deletion and one copy of the common sequence. While often identified as a carrier state, some reports suggest this specific genotype call in certain consumer genetic datasets may be a technical miscall; clinical confirmation is recommended.
This genotype is rarely reported and may be associated with technical artifacts in specific testing platforms.
What is rs397514442?
The identifier rs397514442 refers to a specific position in the human genome located on chromosome 16. In genetic databases, this variant is often associated with the HSD3B7 gene. This gene provides instructions for making an enzyme called 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase. This enzyme plays a critical role in the pathway that converts cholesterol into bile acids, which are essential for the digestion and absorption of dietary fats and fat-soluble vitamins. When a variant occurs in this gene, it may disrupt the normal production or function of this enzyme, potentially leading to an accumulation of intermediate substances or a deficiency in necessary bile acids.
Clinical Associations and Evidence
Research has linked rs397514442 to congenital bile acid synthesis defects. These are rare, inherited conditions that can affect the liver and the body's ability to process fats. The evidence for this association is derived from clinical observations where individuals presenting with specific metabolic symptoms were found to carry this variant. In the context of clinical genetics, this variant is sometimes categorized as pathogenic, meaning it is considered to be a cause of the associated condition. However, it is important to note that the presence of a variant does not automatically guarantee the development of a disease, as other genetic and environmental factors often play a role in how a condition manifests.
Understanding Your Results
If you have encountered this variant in a genetic report, it is essential to understand that this information is for educational purposes only. Genetic testing results can be complex, and the clinical significance of a variant can change as more research becomes available. You cannot use this information to diagnose yourself or others with a medical condition. If you are concerned about your health or the results of a genetic test, you should consult with a qualified healthcare professional, such as a genetic counselor or a physician. They can help interpret your results in the context of your personal and family medical history and guide you on whether further clinical testing or evaluation is appropriate.
How common is this variant?
The variant rs397514442 is considered rare in the general population. Specific frequency data across diverse ancestral groups is limited due to its rarity.
Frequently asked questions
What is the HSD3B7 gene?
The HSD3B7 gene encodes an enzyme necessary for the synthesis of bile acids from cholesterol. Proper bile acid production is vital for healthy digestion and nutrient absorption.
Is rs397514442 a disease-causing mutation?
In clinical literature, this variant has been associated with congenital bile acid synthesis defects. However, clinical interpretation depends on individual context and should be discussed with a medical professional.
Should I be worried if I have this variant?
Finding a rare variant does not necessarily mean you have a health condition. You should discuss any genetic findings with a doctor or genetic counselor who can provide personalized medical advice.
Where can I find more information about this SNP?
You can look up the rsID on public databases like ClinVar or the NCBI SNP database. These resources provide technical details and links to published research studies.
Sources & further reading
Educational information only, last refreshed 10/3/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs397514442?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants
This variant in the HLA-DQB1 region is associated with peanut allergy susceptibility, reflecting the broader role of HLA class II variation in food allergy risk.
This variant is a robustly replicated genetic marker associated with short sleep duration across diverse ancestral populations.
This variant in the TYK2 gene is identified as a shared causal signal in the genetic architecture of psoriasis and rheumatoid arthritis.
This TYK2 variant shows evidence of antagonistic pleiotropy, with opposite effects on the risk of psoriasis versus rheumatoid arthritis.
This SNP acts as an intermediate allele tag for the C9orf72 repeat expansion, which is linked to both ALS risk and longevity outcomes.
This variant in the CDKN2B-AS1 long noncoding RNA gene is associated with extreme longevity in genome-wide association studies.