Genetic Predisposition
Based on your genetic markers, your predisposition to this trait is shown below
Your Result
Lower Astigmatism susceptibility predisposition
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
FLI1 GeneCards
This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs1623169 | T T | C | T | 92.99% | Detected |
HERC2 GeneCards
This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs12913832 | G G | A | G | 17.73% | Detected |
| rs1129038 | T T | C | T | 21.50% | Detected |
PIK3R1 GeneCards
Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs830557 | T T | C | T | 52.90% | Detected |
ADAMTS8 GeneCards
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs7931326 | -- | C | G | 93.50% | No Data |
AOAH GeneCards
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs10279904 | -- | C | T | 98.70% | No Data |
BDKRB2 GeneCards
bradykinin receptor B2
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs56274409 | -- | A | T | 94.40% | No Data |
CTNND2 GeneCards
This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs11955682 | -- | G | T | 2.78% | No Data |
DSTNP2 GeneCards
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs112947941 | -- | A | A | 93.10% | No Data |
DTNBP1 GeneCards
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs115822495 | -- | C | T | 0.34% | No Data |
ITPRIPL2 GeneCards
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs16971637 | -- | A | C | 95.90% | No Data |
KCNU1 GeneCards
potassium calcium-activated channel subfamily U member 1
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs149846728 | -- | G | A | 94.90% | No Data |
KHDRBS2 GeneCards
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs10223780 | -- | C | G | 51.76% | No Data |
LOC100505524 GeneCards
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs35313216 | -- | G | A | 92.80% | No Data |
LOC101928135 GeneCards
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs142566675 | -- | C | A | 0.16% | No Data |
MED13L GeneCards
The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs61935843 | -- | C | A | 91.80% | No Data |
NMUR1 GeneCards
neuromedin U receptor 1
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs12473604 | -- | G | A | 77.50% | No Data |
PARD3 GeneCards
This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs138016380 | -- | C | A | 97.60% | No Data |
SMAD3 GeneCards
The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. It also functions as a tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs11639295 | -- | C | T | 70.60% | No Data |
SMOC2 GeneCards
This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs2763272 | -- | C | T | 11.50% | No Data |
TSHZ3 GeneCards
This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs11084579 | -- | G | A | 66.60% | No Data |
TSPAN10 GeneCards
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs62075722 | -- | A | G | 84.48% | No Data |
VAV2 GeneCards
VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs10993820 | -- | A | G | 79.10% | No Data |
VIPR2 GeneCards
vasoactive intestinal peptide receptor 2
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs117023057 | -- | G | A | 98.40% | No Data |
ZC3H11B GeneCards
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs72629670 | -- | A | G | 37.72% | No Data |
| rs12032649 | -- | T | T | 61.40% | No Data |
ZEB2 GeneCards
The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs62169220 | -- | A | G | 85.00% | 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 |
|---|---|---|---|---|
| rs1353386 | 4 | CC | C | 14.80% |
| rs830557 | 5 | TT | T | 52.90% |
| rs1623169 | 11 | TT | T | 92.99% |
| rs12913832 | 15 | GG | G | 17.73% |
| rs1129038 | 15 | TT | T | 21.50% |
| rs72629670 | 1 | -- | G | 37.72% |
| rs12032649 | 1 | -- | T | 61.40% |
| rs6434068 | 2 | -- | C | 28.23% |
| rs1579050 | 2 | -- | G | 42.50% |
| rs6741982 | 2 | -- | G | 96.10% |
| rs12473604 | 2 | -- | A | 77.50% |
| rs62169220 | 2 | -- | G | 85.00% |
| rs75380963 | 3 | -- | T | 2.34% |
| rs142566675 | 3 | -- | A | 0.16% |
| rs6536686 | 4 | -- | T | 19.20% |
| rs4864857 | 4 | -- | C | 78.40% |
| rs11955682 | 5 | -- | T | 2.78% |
| rs196052 | 6 | -- | A | 62.20% |
| rs2763272 | 6 | -- | T | 11.50% |
| rs115822495 | 6 | -- | T | 0.34% |
| rs10223780 | 6 | -- | G | 51.76% |
| rs10279904 | 7 | -- | T | 98.70% |
| rs117023057 | 7 | -- | A | 98.40% |
| rs149846728 | 8 | -- | A | 94.90% |
| rs10993820 | 9 | -- | G | 79.10% |
| rs12551905 | 9 | -- | C | 98.50% |
| rs11238956 | 10 | -- | C | 17.13% |
| rs138016380 | 10 | -- | A | 97.60% |
| rs35313216 | 11 | -- | A | 92.80% |
| rs7931326 | 11 | -- | G | 93.50% |
| rs2445565 | 11 | -- | C | 47.00% |
| rs112947941 | 12 | -- | A | 93.10% |
| rs61935843 | 12 | -- | A | 91.80% |
| rs9517490 | 13 | -- | C | 30.00% |
| rs56274409 | 14 | -- | T | 94.40% |
| rs11639295 | 15 | -- | T | 70.60% |
| rs16971637 | 16 | -- | C | 95.90% |
| rs62075722 | 17 | -- | G | 84.48% |
| rs11084579 | 19 | -- | A | 66.60% |
The following peer-reviewed scientific studies support the genetic associations analyzed in this report.
What's Next?
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