Research — GeneOps

rs692383 Intronic variant in the ABCG1 cholesterol efflux transporter gene associated with differential HDL-cholesterol response during calorie-restricted dieting; G allele carriers preserve HDL-c more effectively, while AA homozygotes show greater HDL-c reduction when losing weight.

Chromosome 21 Risk Allele A Category Triglycerides & Fatty Acids Tags HDL Cholesterol, Triglycerides, Cholesterol, Cardiovascular, Fat Metabolism, Obesity

When you lose weight through a calorie-restricted diet, your HDL-cholesterol levels can shift in complex ways — and your ABCG1 genotype at rs692383 appears to determine how much HDL-c you preserve during that process. ABCG1 (https://pubmed.ncbi.nlm.nih.gov/19797709/) is one of the body's primary cholesterol efflux...

rs767870 Intronic variant in ADIPOR2 (adiponectin receptor 2) associated with reduced insulin sensitivity and increased type 2 diabetes risk; the G allele impairs adiponectin-driven PPARα and AMPK signaling that governs fatty acid oxidation and hepatic glucose metabolism

Chromosome 12 Risk Allele G Category Fat Storage & Energy Tags Insulin Resistance, Diabetes, Fat Metabolism, Liver Health, Metabolic, Cardiovascular

Adiponectin is one of the body's most potent insulin-sensitizing hormones, secreted by adipose tissue and acting on the liver and muscle to reduce fat accumulation and improve glucose handling. Its actions depend entirely on two receptors: AdipoR1 and AdipoR2(https://www.ncbi.nlm.nih.gov/gene/79602). rs767870 sits...

rs2303065 Synonymous variant in SPINK5 exon 13 that tags the same risk haplotype as the nearby functional Lys420Glu variant (rs2303067), associated with atopic dermatitis susceptibility through linkage disequilibrium rather than a direct protein-altering effect

Chromosome 5 Risk Allele T Category Allergy & Atopic Disease Tags Skin Health, Autoimmune, Inflammation, Protease Inhibitor, Asthma, Skin & Eyes

The SPINK5 gene encodes LEKTI(https://pubmed.ncbi.nlm.nih.gov/11544479/), the protease inhibitor central to skin barrier integrity. Genetic variants across SPINK5 have been associated with atopic dermatitis since the landmark Walley et al. study(https://pubmed.ncbi.nlm.nih.gov/11544479/) identified the gene's role...

rs356219 SNCA 3′-region regulatory variant that upregulates alpha-synuclein expression and independently increases Parkinson's disease risk, earlier onset, and cognitive decline

Chromosome 4 Risk Allele G Category Neurology & Cognition Tags Neurological Risk, Parkinson's, Neuroprotection, Brain Health, Oxidative Stress, Cognitive Decline

The SNCA gene(https://omim.org/entry/163890) contains multiple independent risk variants. rs356219 sits approximately 9 kilobases downstream of SNCA in a regulatory region that controls how much alpha-synuclein protein the cell produces. Unlike rs356182 — which acts through neuronal differentiation pathways —...

rs3788200 Intronic SLC19A1 tag variant in strong LD with the G80A folate-transporter coding variant — marks reduced folate carrier efficiency

Chromosome 21 Risk Allele G Category Methylation & Detox Tags Methylation, Folate, B Vitamins, Homocysteine

The SLC19A1 gene encodes the reduced folate carrier (RFC1), the primary mechanism by which folate moves from the bloodstream into your cells. Without efficient RFC1 function, intracellular folate levels fall — even when blood folate appears normal. The rs3788200 variant sits in intron 2 of SLC19A1 and has no direct...

rs3814637 Upstream CYP2C19 variant associated with altered R-warfarin clearance and increased exposure to CYP2C19 substrates

Chromosome 10 Risk Allele T Category Pharmacogenomics Tags Drug Metabolism, Warfarin, Pharmacogenomics, Cardiovascular, Drug Response

CYP2C19 is one of the most important drug-metabolizing enzymes in the liver, responsible for processing a wide range of medications including anticoagulants, proton pump inhibitors, antidepressants, and antifungals. While much attention focuses on the well-characterized loss-of-function variants (2, 3) and the...

rs5030868 Severe Class II G6PD deficiency variant (c.563C>T, p.Ser188Phe) causing less than 10% residual enzyme activity and high risk of acute hemolytic anemia from drugs, fava beans, and infections; prevalent across Mediterranean, Middle Eastern, and South Asian populations

Chromosome X Risk Allele A Category Blood Sugar & Diabetes Tags Erythropoiesis, Oxidative Stress, Drug Metabolism, Pharmacogenomics, Diabetes, Ancestry-Specific, Drug Safety

Glucose-6-phosphate dehydrogenase (G6PD) is a housekeeping enzyme present in every cell, but it is most critically important in red blood cells — which have no mitochondria and therefore depend entirely on G6PD as their sole source of NADPH(https://medlineplus.gov/genetics/gene/g6pd/). When G6PD activity is severely...

rs5443 Synonymous exon-10 variant that triggers alternative splicing of the G-protein beta-3 subunit, amplifying signaling through virtually every GPCR — affecting blood pressure, weight regulation, hormonal responses, sleep timing, and antidepressant efficacy

Chromosome 12 Risk Allele T Category Hormones & Sleep Tags Hypertension, Blood Pressure, Antidepressants, Cardiovascular, Obesity, Metabolic Syndrome, Hormones, Neurotransmitters

Your hormones don't act directly on cells — they bind to receptors that activate relay proteins called heterotrimeric G proteins. The G-protein beta-3 subunit (GNB3) is one of these essential relay molecules, present in virtually every cell in your body. The C825T polymorphism (rs5443) at exon 10 of the GNB3...

rs8034802 Intronic LIPC variant associated with higher baseline HDL-C and an amplified HDL-C response to intensive lifestyle intervention — particularly relevant for people with obesity and type 2 diabetes

Chromosome 15 Risk Allele A Category Triglycerides & Fatty Acids Tags Fat Metabolism, HDL Cholesterol, Cholesterol, Cardiovascular, Lifestyle

Hepatic lipase (HL), encoded by the LIPC gene on chromosome 15, is the enzyme that finishes the job of remodeling lipoprotein particles at the liver surface. After lipoprotein lipase strips triglycerides from VLDL particles in peripheral tissues, the remnants — and the large HDL2 particles that have absorbed...

rs822391 Intronic variant in the adiponectin gene associated with circulating adiponectin levels, ischemic stroke risk, and metabolic cardiovascular traits; the C allele — present in roughly 14% of people globally and 20% of Europeans — is linked to lower adiponectin output and elevated cerebrovascular risk

Chromosome 3 Risk Allele C Category Fat Storage & Energy Tags Adipogenesis, Insulin Resistance, Cardiovascular, Metabolic Health, Omega-3, Blood Pressure

Adiponectin is one of the body's most protective metabolic hormones — secreted exclusively by fat cells, it simultaneously suppresses hepatic glucose output, activates AMPK in skeletal muscle, and shields artery walls from inflammation. People with high circulating adiponectin have meaningfully lower rates of type 2...