Genetic Predisposition
Based on your genetic markers, your predisposition to this trait is shown below
Your Result
Lower Bone Mineral Density
Was this result accurate for you?
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
SOST GeneCards
Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs1107748 | T C | T | C | 3.62% | Detected |
| rs7220711 | A G | A | G | 3.68% | Detected |
| rs1513670 | C C | T | C | 3.68% | Detected |
| rs71382995 | -- | G | A | 9.56% | No Data |
EN1 GeneCards
Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs55983207 | -- | T | C | 2.16% | No Data |
| rs115242848 | -- | C | T | 1.22% | No Data |
PTCH1 GeneCards
This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs28377268 | -- | G | T | 15.71% | No Data |
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 |
|---|---|---|---|---|
| rs1107748 | 17 | TC | C | 3.62% |
| rs7220711 | 17 | AG | G | 3.68% |
| rs1513670 | 17 | CC | C | 3.68% |
| rs55983207 | 2 | -- | C | 2.16% |
| rs115242848 | 2 | -- | T | 1.22% |
| rs28377268 | 9 | -- | T | 15.71% |
| rs71382995 | 17 | -- | A | 9.56% |
The following peer-reviewed scientific studies support the genetic associations analyzed in this report.
What's Next?
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