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Nasal protrusion

Facial Features

Nasal protrusion describes how far the bridge of the nose extends from the face. It is studied as a heritable facial feature.

GWAS work has identified variants near genes involved in craniofacial development linked to nasal protrusion.

This result reflects research-level variation in facial biology and is not a measurement of any individual's nose.

Age, growth, ethnicity, and surrounding facial features also strongly affect how the nose actually looks.

All traits Compare samples

Selected sample: Demo Report
Report markers: 3 SNP entries
Genes: 1
Research: 1 study

Important Medical Disclaimer

This report is intended for educational and informational purposes only. It is not intended to provide medical advice or be used solely by the customer in the diagnosis, cure, mitigation, treatment, or prevention of any disease or health condition. If you have serious medical conditions, including but not limited to weight-related issues, diabetes, or heart disease, you should not make changes to your diet or exercise routine without consulting your healthcare provider. Under no circumstances should you modify your medication or medical care without professional medical guidance. Find more information at this link

Your report

Genetic tendency

Normal odds of having a prominent nasal protusion

Very Low Very High

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Evidence and coverage

Confidence score

Very high

Read the evidence rating alongside the markers detected in your file. Confidence and tendency describe different aspects of this report.

Markers detected3 / 3100% coverage of report entries

Trait influence breakdown

Genetic 85% 85% Environment 15% 15%

Explore the evidence

Behind this report

Review the genes, tested markers and supporting research.

Genes analyzed

Gene summaries include genomic locations and associated markers. A detected genotype does not by itself indicate a health condition.

Understanding the data

SNP: A specific genetic marker relevant to this trait.
Genotype: The DNA letters reported at a marker location.
Variant allele: The alternative DNA sequence at the SNP site.
Variant allele frequency: The reported percentage of the reference population carrying this variant.
Variant found: Whether the variant was detected in your DNA file.

1 of 1 genes have detected genotypes.

PAX3

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]

GeneCards

Chromosome: 2
Start: 222,199,887
End: 222,298,998
Build: HG19

Associated SNPs 1 / 1 detected

Associated markers for PAX3
SNP	Genotype	Ref. allele	Variant allele	Frequency	Status
rs7559271	AA	G	A	46.59%	Detected

SNPs tested

These are the unique genetic markers analyzed for this trait. Genotypes showing "--" were not identified in your DNA file. Report marker totals can include repeated study entries; this table shows each SNP once.

Genotypes and reported variant frequencies
SNP	Chromosome	Genotype	Variant allele	Frequency
rs7559271	2	AA	A	46.59%

DNA Genics reports genotypes based on the 'positive' strand of the human genome reference sequence (build 37/HG19). Other companies may use the opposite strand, so genotypes may need conversion for comparison.

Research studies

The following peer-reviewed scientific studies support the genetic associations analyzed in this report.

Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position

Evidence

Very strong scientific evidence

03/09/2012 Am J Hum Genet

Authors: Paternoster L, Zhurov AI, Toma AM, Kemp JP, St Pourcain B, Timpson NJ, McMahon G, McArdle W, Ring SM, Smith GD, Richmond S, Evans DM

Study sample: 2,185 individuals (european ancestry)