Research — GeneOps

rs62623713 Low-frequency missense variant in SYPL2 associated with morbid obesity susceptibility and sex-specific fat distribution patterns

Chromosome 1 Risk Allele G Category Fitness & Body Tags Obesity, Fat Metabolism, Fat Distribution, Metabolic, Fitness

SYPL2 (synaptophysin-like 2, also known as MG29) encodes a membrane protein related to synaptophysin, a major constituent of synaptic vesicles. In the context of metabolism, SYPL2 is expressed in adipose tissue and skeletal muscle and appears to influence fat cell biology and the response to physical activity. The...

rs6564851 Upstream regulatory variant that reduces BCO1 (BCMO1) catalytic activity by ~48%, independently limiting beta-carotene to vitamin A conversion; the top GWAS hit for circulating beta-carotene levels

Chromosome 16 Risk Allele G Category Vitamins & Nutrient Absorption Tags Vitamin A, Beta-Carotene, Diet, Eye Health

The BCO1 gene encodes beta-carotene 15,15'-monooxygenase(), the key enzyme converting plant-based provitamin A into biologically active vitamin A. Most genetic studies of BCO1 focus on two coding variants — rs7501331 (Ala379Val) and rs12934922 (Arg267Ser) — that directly alter the enzyme's amino acid sequence. The...

rs7091565 3' UTR variant in ANXA11 (annexin A11) in strong LD with the functional R230C missense variant (rs1049550); the C allele tags the sarcoidosis-risk haplotype and is associated with increased susceptibility to pulmonary granulomatous inflammation

Chromosome 10 Risk Allele C Category Innate Immunity & Infection Defense Tags Autoimmune, Inflammation, Lung Health, Apoptosis, Immune & Autoimmune, Immune Response

Sarcoidosis is a mysterious inflammatory disease in which the immune system forms granulomas(https://pubmed.ncbi.nlm.nih.gov/19165924/) in the lungs and other organs. It strikes disproportionately in people of African descent and in Scandinavians, peaks between ages 25–45, and ranges from self-resolving (Löfgren's...

rs71180793 Frameshift deletion in obscurin, a giant sarcomeric scaffold protein; heterozygous carriers have a moderately elevated risk of OBSCN-related cardiomyopathy, warranting cardiac surveillance.

Chromosome 1 Risk Allele D Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Muscle, Connective Tissue, Carrier Status, Genetic Counseling

Obscurin is one of the largest proteins in the human body — a giant cytoskeletal scaffold encoded by the OBSCN gene on chromosome 1q42. In cardiac and skeletal muscle, obscurin anchors the sarcoplasmic reticulum to the sarcomere(https://pubmed.ncbi.nlm.nih.gov/30099631/), coordinates myofibrillogenesis, and...

rs73885319 APOL1 G1 kidney disease risk variant — missense change that evolved for trypanosome resistance but causes nephropathy in the recessive state

Chromosome 22 Risk Allele G Category Cholesterol & Lipoproteins Tags Kidney Disease, Nephrology, Immune Defense, Ancestry-Specific, Renal Function

The APOL1 gene encodes apolipoprotein L1(https://pubmed.ncbi.nlm.nih.gov/20647424/), a critical component of the innate immune defense against Trypanosoma brucei(https://pubmed.ncbi.nlm.nih.gov/28537557/). The rs73885319 variant (c.1024AG) produces a serine-to-glycine change at position 342, located in the...

rs753085 Intronic variant in COL27A1 (collagen type XXVII alpha-1) associated with altered connective tissue integrity and elevated varicose vein risk.

Chromosome 9 Risk Allele A Category Coronary Artery Disease & Atherosclerosis Tags Collagen, Connective Tissue, Cardiovascular, Extracellular Matrix, Bone & Joint

Every vein in your body is held in shape by a scaffold of collagen fibres woven through the vessel wall. Collagen type XXVII — encoded by COL27A1 — is one of the structural proteins in this scaffold. It is a fibrillar collagen first characterised in cartilage, where it organises the pericellular matrix around...

rs806368 3'UTR variant in the cannabinoid receptor 1 gene that regulates CB1 expression in the brain and modulates vulnerability to cannabis, alcohol, nicotine, and cocaine dependence, as well as impulsivity and emotional reactivity

Chromosome 6 Risk Allele T Category Mood & Behavior Tags Addiction, Neurotransmitters, Brain Health, Endocannabinoid, Dopamine, Cannabis

The endocannabinoid system is one of the most pervasive modulatory systems in the human brain. At its center sits CB1(), encoded by the CNR1 gene on chromosome 6. CB1 is the most abundant G-protein-coupled receptor in the central nervous system, serving as the primary target for the body's own endocannabinoid...

rs887829 Promoter variant in UGT1A1 that tags the *28 reduced-expression haplotype; T allele carriers have lower hepatic UGT1A1 expression, mildly elevated unconjugated bilirubin (Gilbert syndrome spectrum), and altered metabolism of bilirubin, atazanavir, and irinotecan

Chromosome 2 Risk Allele T Category Vascular Inflammation & Remodeling Tags Bilirubin, Pharmacogenomics, Drug Metabolism, Cardiovascular, Liver Health, Oxidative Stress, Phase II, Detoxification

Bilirubin is best known as the yellow pigment of jaundice — a signal that something is wrong with the liver. But in small amounts, unconjugated bilirubin is a normal and potent endogenous antioxidant, and the enzyme responsible for clearing it from the blood, UGT1A1 (UDP-glucuronosyltransferase...

rs9819506 Promoter-region tag SNP in the ghrelin receptor gene associated with body weight and dietary weight loss response; the T allele is linked to lower body weight and greater weight loss after both dietary intervention and bariatric surgery, likely through LD with nearby functional GHSR promoter variants

Chromosome 3 Risk Allele C Category Appetite & Obesity Tags Appetite, Obesity, Satiety, Metabolic Health, Hormones, Fat Metabolism

Ghrelin is the body's primary hunger hormone — a gut-derived peptide that rises before meals, falls after eating, and drives appetite through the growth hormone secretagogue receptor (GHSR-1a)(https://pubmed.ncbi.nlm.nih.gov/28134808/). The amount of GHSR protein expressed in appetite-regulating brain regions...

rs1885013 Intronic variant in RAD51B (RAD51 paralog B), a DNA double-strand break repair gene; the G allele is associated with increased susceptibility to asthma and atopic disease, while the A allele associates with rheumatoid arthritis risk, implicating RAD51B in shared immune dysregulation across inflammatory conditions

Chromosome 14 Risk Allele G Category Allergy & Atopic Disease Tags Asthma, DNA Repair, Arthritis, Autoimmune, Immune System, Rheumatoid Arthritis

RAD51B(https://www.ncbi.nlm.nih.gov/gene/5890) is best known as a genome guardian — a protein that physically handles the most dangerous type of DNA damage a cell can experience. rs1885013 is an intronic variant within RAD51B on chromosome 14q24.1, sitting within a locus that genome-wide association studies have now...