Genetic Predisposition
Based on your genetic markers, your predisposition to this trait is shown below
Your Result
Average genetic 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
ACP2 GeneCards
The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from the red cell acid phosphatase. Mice lacking this gene showed multiple defects, including bone structure alterations, lysosomal storage defects, and an increased tendency towards seizures. An enzymatically-inactive allele of this gene in mice showed severe growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs10769256 | C T | C | T | 40.24% | Detected |
ARHGAP1 GeneCards
Rho GTPase activating protein 1
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs11039149 | A G | A | G | 26.95% | Detected |
DCC GeneCards
This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs17681615 | A A | G | A | 32.93% | Detected |
| rs8097041 | -- | A | T | 37.54% | No Data |
| rs17501820 | -- | C | T | 40.47% | No Data |
SORCS3 GeneCards
sortilin related VPS10 domain containing receptor 3
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs11599236 | C C | T | C | 40.74% | Detected |
| rs12359689 | -- | G | A | 10.84% | No Data |
VRK2 GeneCards
This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs2312147 | T C | T | C | 37.60% | Detected |
ACBD4 GeneCards
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs56280951 | -- | G | A | 21.43% | No Data |
CELF4 GeneCards
CUGBP Elav-like family member 4
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs55731231 | -- | C | G | 22.12% | No Data |
CFHR2 GeneCards
This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs7534703 | -- | C | T | 2.06% | No Data |
CNTN5 GeneCards
The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs628246 | -- | T | C | 17.18% | No Data |
DDB2 GeneCards
This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs4752801 | -- | A | G | 36.10% | No Data |
ELFN1 GeneCards
extracellular leucine rich repeat and fibronectin type III domain containing 1
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs55893771 | -- | C | T | 14.55% | No Data |
FANCL GeneCards
This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs35609938 | -- | T | C | 49.48% | No Data |
GSDMB GeneCards
This gene encodes a member of the gasdermin-domain containing protein family. Other gasdermin-family genes are implicated in the regulation of apoptosis in epithelial cells, and are linked to cancer. Alternative splicing and the use of alternative promoters results in multiple transcript variants. Additional variants have been described, but they are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs868150 | -- | A | G | 41.08% | No Data |
KIAA1109 GeneCards
This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs45510091 | -- | A | G | 5.23% | No Data |
KLHL20 GeneCards
The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs77417259 | -- | G | A | 2.96% | No Data |
KLHL29 GeneCards
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs72786276 | -- | G | A | 12.96% | No Data |
LIN7C GeneCards
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs113829044 | -- | T | C | 3.51% | No Data |
LSAMP GeneCards
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs67932684 | -- | A | G | 39.03% | No Data |
METTL16 GeneCards
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs35994060 | -- | A | T | 38.79% | No Data |
MST1 GeneCards
The protein encoded by this gene contains four kringle domains and a serine protease domain, similar to that found in hepatic growth factor. Despite the presence of the serine protease domain, the encoded protein may not have any proteolytic activity. The receptor for this protein is RON tyrosine kinase, which upon activation stimulates ciliary motility of ciliated epithelial lung cells. This protein is secreted and cleaved to form an alpha chain and a beta chain bridged by disulfide bonds.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs7613360 | -- | C | T | 38.65% | No Data |
NCAM1 GeneCards
This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein plays a role in the development of the nervous system by regulating neurogenesis, neurite outgrowth, and cell migration. This protein is also involved in the expansion of T lymphocytes, B lymphocytes and natural killer (NK) cells which play an important role in immune surveillance. This protein plays a role in signal transduction by interacting with fibroblast growth factor receptors, N-cadherin and other components of the extracellular matrix and by triggering signalling cascades involving FYN-focal adhesion kinase (FAK), mitogen-activated protein kinase (MAPK), and phosphatidylinositol 3-kinase (PI3K). One prominent isoform of this gene, cell surface molecule CD56, plays a role in several myeloproliferative disorders such as acute myeloid leukemia and differential expression of this gene is associated with differential disease progression. For example, increased expression of CD56 is correlated with lower survival in acute myeloid leukemia patients whereas increased severity of COVID-19 is correlated with decreased abundance of CD56-expressing NK cells in peripheral blood. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs4424705 | -- | T | A | 25.67% | No Data |
NR1H3 GeneCards
The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. 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 |
|---|---|---|---|---|---|
| rs7107356 | -- | A | G | 49.50% | No Data |
PSORS1C1 GeneCards
This gene is one of several genes thought to confer susceptibility to psoriasis and systemic sclerosis, located on chromosome 6 near the major histocompatibility complex (MHC) class I region.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs17192757 | -- | G | A | 13.26% | No Data |
RERE GeneCards
This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs3795310 | -- | C | T | 45.94% | No Data |
TRIM27 GeneCards
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs41286287 | -- | T | A | 7.07% | No Data |
UNG GeneCards
This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases.
Genomic Location
Associated SNPs
| SNP | Genotype | Ref. Allele | Variant Allele | Frequency | Status |
|---|---|---|---|---|---|
| rs11608355 | -- | T | C | 31.68% | 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 |
|---|---|---|---|---|
| rs2312147 | 2 | TC | C | 37.60% |
| rs848286 | 2 | TC | C | 36.90% |
| rs9586 | 3 | TT | T | 22.00% |
| rs836927 | 3 | AA | A | 43.63% |
| rs11599236 | 10 | CC | C | 40.74% |
| rs11039149 | 11 | AG | G | 26.95% |
| rs10769256 | 11 | CT | T | 40.24% |
| rs3936093 | 15 | GG | G | 43.29% |
| rs17681615 | 18 | AA | A | 32.93% |
| rs140588606 | 1 | -- | A | 2.97% |
| rs75650221 | 1 | -- | T | 3.86% |
| rs77417259 | 1 | -- | A | 2.96% |
| rs75035127 | 1 | -- | G | 2.97% |
| rs41304550 | 1 | -- | T | 2.26% |
| rs76785379 | 1 | -- | T | 2.24% |
| rs77154778 | 1 | -- | A | 2.20% |
| rs7534703 | 1 | -- | T | 2.06% |
| rs140581634 | 1 | -- | T | 3.07% |
| rs3795310 | 1 | -- | T | 45.94% |
| rs1994247 | 2 | -- | T | 47.95% |
| rs59187049 | 2 | -- | C | 30.41% |
| rs72786276 | 2 | -- | A | 12.96% |
| rs13018407 | 2 | -- | C | 34.25% |
| rs72781632 | 2 | -- | C | 13.27% |
| rs2042555 | 2 | -- | A | 41.05% |
| rs35609938 | 2 | -- | C | 49.48% |
| rs67932684 | 3 | -- | G | 39.03% |
| rs7613360 | 3 | -- | T | 38.65% |
| rs114306779 | 3 | -- | T | 4.55% |
| rs45510091 | 4 | -- | G | 5.23% |
| rs55854228 | 4 | -- | A | 5.23% |
| rs1422191 | 5 | -- | A | 16.59% |
| rs146918648 | 6 | -- | A | 4.21% |
| rs17192757 | 6 | -- | A | 13.26% |
| rs41286287 | 6 | -- | A | 7.07% |
| rs114224598 | 6 | -- | A | 4.56% |
| rs55893771 | 7 | -- | T | 14.55% |
| rs1971655 | 8 | -- | T | 49.21% |
| rs10156548 | 9 | -- | C | 37.05% |
| rs72825713 | 10 | -- | T | 11.02% |
| rs17805214 | 10 | -- | T | 15.45% |
| rs12359689 | 10 | -- | A | 10.84% |
| rs7912226 | 10 | -- | A | 40.09% |
| rs628246 | 11 | -- | C | 17.18% |
| rs4424705 | 11 | -- | A | 25.67% |
| rs7128325 | 11 | -- | A | 32.71% |
| rs7107356 | 11 | -- | G | 49.50% |
| rs17309825 | 11 | -- | C | 3.92% |
| rs113829044 | 11 | -- | C | 3.51% |
| rs4757142 | 11 | -- | A | 40.34% |
| rs4752801 | 11 | -- | G | 36.10% |
| rs4245154 | 11 | -- | G | 43.11% |
| rs11608355 | 12 | -- | C | 31.68% |
| rs12945855 | 17 | -- | C | 46.79% |
| rs868150 | 17 | -- | G | 41.08% |
| rs35994060 | 17 | -- | T | 38.79% |
| rs17577369 | 17 | -- | G | 21.57% |
| rs1378358 | 17 | -- | T | 20.63% |
| rs2732708 | 17 | -- | T | 21.40% |
| rs56280951 | 17 | -- | A | 21.43% |
| rs8097041 | 18 | -- | T | 37.54% |
| rs17501820 | 18 | -- | T | 40.47% |
| rs11659803 | 18 | -- | A | 38.31% |
| rs55731231 | 18 | -- | G | 22.12% |
The following peer-reviewed scientific studies support the genetic associations analyzed in this report.
What's Next?
Print Report
Download or print this report for your records