EDN3 rs745795470: what the research says
This single-nucleotide polymorphism is annotated as a probable pathogenic variant in clinical databases.
What each genotype means
Typical EDN3 genotype
This is the common, reference genotype for this location in the EDN3 gene. It is not associated with the clinical conditions linked to the variant allele.
This is the most common genotype found in the general population.
Carrier of rare variant
You carry one copy of the rare A allele. This variant has been identified in clinical databases as potentially pathogenic and is associated with Waardenburg syndrome and Hirschsprung disease. Please consult with a genetic counselor or medical professional to discuss the clinical relevance of this finding for your health.
This genotype is extremely rare in the general population.
Associated with clinical conditions
You carry two copies of the rare A allele. This variant is classified as probable-pathogenic and has been linked to Waardenburg syndrome and Hirschsprung disease in clinical literature. It is important to discuss these results with a healthcare provider or clinical geneticist to understand what this means for your specific health context.
This genotype is exceptionally rare and is not typically observed in large-scale population studies.
Rare
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