Genetic Predisposition
Based on your genetic markers, your predisposition to this trait is shown below
Your Result
Normal odds of having a prominent nasal protusion
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Scientific Evidence
Understanding the Data
- SNP: A specific genetic marker relevant to this trait (e.g., rs2588978)
- Genotype: Your genetic makeup at the given SNP location (e.g., CC)
- Variant allele: The alternative DNA sequence at the SNP site
- Variant allele frequency: Percentage of population carrying this variant
- Variant found: Whether the variant was detected in your DNA file
PAX3 GeneCards
This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs7559271 | A A | G | A | 46.59% | Detected |
These are the genetic markers (SNPs) analyzed for this trait. Variations detected in your genome are listed under the "Genotype" column. SNPs showing "--" were not identified in your DNA file.
| SNP | Chromosome | Genotype | Variant Allele | Frequency |
|---|---|---|---|---|
| rs7559271 | 2 | AA | A | 46.59% |
The following peer-reviewed scientific studies support the genetic associations analyzed in this report.
What's Next?
Print Report
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