CASC17 rs6101567: Facial Morphology and Nasal Shape
The single nucleotide polymorphism rs6101567 is a common non-coding variant situated in the CASC17 genomic locus on chromosome 17. Population-level genome-wide association studies have identified it as a contributor to subtle, normal variations in nasal shape, particularly nasal width and protrusion. Because facial features are highly polygenic, carrying a particular allele at rs6101567 reflects only a minor statistical influence alongside hundreds of other developmental factors.
What each genotype means
Typical facial morphology profile
You carry two copies of the common A allele at rs6101567 near CASC17. In population-level facial morphology screens, this baseline genotype is not associated with the incremental changes in nasal protrusion or nose width linked to the G allele. This finding reflects normal, benign structural variation in facial features and has no clinical or medical health implications.
Carried by approximately 45% to 50% of individuals of East Asian descent and is the predominant genotype across most global populations.
Intermediate nasal dimension variation
You carry one copy of the G allele at rs6101567 near CASC17. Genome-wide association studies evaluating 3D facial morphology have linked this allele to subtle, quantitative shifts in nasal dimensions, particularly variations in nasal protrusion and width. Facial features are polygenic and influenced by many genes together with developmental factors, so this genetic variant only accounts for a small degree of overall facial shape.
Carried by approximately 40% to 45% of people of East Asian ancestry and occurs at lower frequencies in other global ancestries.
Altered nasal morphology association
You carry two copies of the G allele at rs6101567 near CASC17. In genome-wide association studies of human facial shape, having two copies of this variant is statistically correlated with measurable shifts in nasal width and protrusion compared to the common genotype. Facial appearance is shaped by the interplay of hundreds of genetic loci and environment, and this variant represents normal biological diversity rather than a medical condition.
Carried by approximately 8% to 10% of individuals in East Asian populations, where the G allele has an overall frequency of around 31%.
Genomic Location and Variant Characteristics
The variant rs6101567 is a single nucleotide polymorphism located on chromosome 17 within the CASC17 gene region. In dbSNP records, the variant represents an A/G single nucleotide change. Rather than altering a protein coding sequence directly, rs6101567 is situated in a non-coding region of the genome. Non-coding genetic variations frequently operate as regulatory switches, influencing the transcription, spatial folding, or expression levels of nearby target genes during embryogenesis or tissue differentiation. In modern genomic databases such as dbSNP and Ensembl, rs6101567 is tracked primarily as a marker for craniofacial quantitative trait loci rather than a driver of pathogenic monogenic disease.
Biological Context of CASC17 and the 17q24 Region
The CASC17 locus encodes a long non-protein-coding RNA (lncRNA), also known as LINC00600. While long non-coding RNAs do not produce functional protein products, they frequently act as epigenetic scaffold molecules, transcriptional modulators, or chromosomal regulators. Notably, CASC17 resides on chromosome 17q24, an expansive regulatory neighborhood near SOX9, an essential transcription factor heavily involved in chondrogenesis, cartilage formation, and craniofacial morphogenesis. While severe disruptions in the broader 17q24 region can impair cartilage and skeletal growth, common non-coding variation in genes like CASC17 appears to act as fine-tuning regulatory input during the subtle development of facial cartilage structures.
Evidence from Facial Morphology GWAS
Multiple genome-wide association studies have linked rs6101567 to variation in facial morphology. Early large-scale screens analyzing self-reported facial characteristics initially tagged the genomic locus for nose shape, and subsequent replication efforts in cohorts such as East Asian populations confirmed the signal for refined three-dimensional nasal metrics, including nasal bridge width and protrusion. The strength of evidence for rs6101567 is considered moderate: the statistical association is replicated in high-throughput population screens, but its individual effect size on facial proportions is tiny. Like most morphological traits, nasal contour is determined by the additive and epistatic effects of hundreds of loci interacting with developmental stochasticity.
Understanding Polygenic Traits and Genetic Limitations
It is critical to distinguish between a statistical association and facial determinism. Having one or two copies of a specific allele at rs6101567 does not mean a person will have an unambiguously wide, narrow, or protruding nose. Modern craniofacial geneticists emphasize that normal facial structure cannot be reliably reconstructed or diagnosed from individual common SNPs. Furthermore, rs6101567 does not cause respiratory issues, aesthetic abnormalities, or craniofacial syndromes. Discovering your genotype at this position offers an interesting educational glance into human phenotypic diversity, but it holds no clinical utility, medical significance, or diagnostic application.
How common is this variant?
The minor allele frequency for rs6101567 is approximately 0.31 across East Asian populations, while frequencies vary across global ancestral groups.
Frequently asked questions
Can rs6101567 predict the exact shape of my nose?
No. While rs6101567 has been linked in research studies to slight statistical differences in nasal protrusion and width, nasal morphology is heavily polygenic. Hundreds of genetic markers and developmental factors work together to shape a person's facial features.
Does rs6101567 cause any medical problems or breathing issues?
No, rs6101567 is not associated with nasal airway obstruction, deviated septums, or respiratory disease. It is a benign, common variant studied strictly in the context of normal human physical variation.
What is the function of the CASC17 gene?
CASC17 is a long non-coding RNA gene located on chromosome 17. Instead of encoding a protein, it produces an RNA molecule that likely plays regulatory roles, potentially influencing nearby genes involved in development.
Why do facial genetic studies focus on populations like East Asians?
Many early facial genetic studies focused primarily on cohorts of European ancestry. Research teams have expanded cohorts to include East Asian and other global populations to better understand the universal and ancestry-specific genetic factors governing craniofacial morphology.
Sources & further reading
Educational information only, last refreshed 9/13/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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