Research — GeneOps

rs13429458 — THADA THADA PCOS/T2D Variant

Chromosome 2 Risk Allele C Category Blood Sugar & Diabetes Diabetes, PCOS, Insulin, Pancreatic Beta Cell, Reproductive Health, Ancestry-Specific

Intronic variant in THADA, a gene encoding a calcium channel-regulating protein; the C allele increases PCOS risk in Asian women and influences pancreatic beta-cell function in the context of type 2 diabetes

rs16928751 — ADIPOR2 ADIPOR2 CVD co-association variant

Chromosome 12 Risk Allele A Category Fat Storage & Energy Adipogenesis, Cardiovascular, Fat Metabolism, Insulin Resistance, Metabolic Health

Synonymous coding variant in ADIPOR2 (Q265Q) that was co-associated with cardiovascular disease risk in the Finnish Diabetes Prevention Study alongside three other ADIPOR2 intronic variants, suggesting it tags an extended risk haplotype affecting adiponectin receptor 2 expression or function in people with impaired glucose tolerance

rs17482753 — LPL LPL G>T (Intergenic Variant)

Chromosome 8 Risk Allele G Category Triglycerides & Fatty Acids Triglycerides, Fat Metabolism, Cardiovascular, Lipid Metabolism, Metabolic Syndrome

Intergenic variant near the lipoprotein lipase gene on 8p21.3 with an independent triglyceride-lowering association; the rare T allele is linked to lower fasting triglycerides and reduced metabolic syndrome risk.

rs1799971 — OPRM1 A118G

Chromosome 6 Risk Allele G Category Pharmacogenomics Drug Metabolism, Pain Medication, Addiction, Neurotransmitters, Pharmacogenomics

Mu-opioid receptor variant affecting opioid response, pain sensitivity, and potentially naltrexone efficacy

rs1800625 — AGER AGER -429T>C

Chromosome 6 Risk Allele G Category Hormones & Sleep Inflammaging, Oxidative Stress, Diabetes, Inflammation, Aging, Cardiovascular

Promoter variant at position -429 in the AGER gene that increases RAGE transcription, elevating membrane RAGE and altering soluble sRAGE levels; associated with higher inflammatory signaling through the AGE-RAGE-NF-κB axis and linked to diabetic complications, cancer susceptibility, and sepsis risk

rs1801252 — ADRB1 Ser49Gly

Chromosome 10 Risk Allele A Category Fitness & Body Fitness, Cardiovascular, Exercise Performance, Heart Disease, Drug Response, Hypertension

Beta-1 adrenergic receptor variant at position 49 affecting receptor downregulation kinetics, resting heart rate, heart failure prognosis, and endurance exercise capacity

rs1831282 — CFH

Chromosome 1 Risk Allele C Category Vascular Inflammation & Remodeling Complement System, Eye Health, Aging, Inflammation, Retinal Health, Immune System

Intronic CFH variant at chromosome 1q31.3 associated with AMD risk; the C allele (common globally) tags a complement-dysregulation haplotype, while the rare A allele (GRCh38 reference) is protective

rs2153960 — FOXO3

Chromosome 6 Risk Allele A Category Longevity & Aging Longevity, Aging, Insulin, Inflammation, Cardiovascular, Oxidative Stress, Ovarian Reserve, Menopause

Intronic FOXO3 tag SNP whose A allele associates with higher circulating IGF-1 at genome-wide significance; the G allele may favor lower IGF-1 and stronger FOXO3 pathway activation

rs2234714 — ABCG1 ABCG1 promoter variant

Chromosome 21 Risk Allele G Category Cholesterol & Lipoproteins Cholesterol, Cardiovascular, Lipid Metabolism, HDL Cholesterol, Atherosclerosis, Macrophage

Intronic ABCG1 variant near the promoter region; homozygous carriers of the minor A allele showed a 36% lower odds of coronary artery disease in a Chinese Han cohort, suggesting a modest protective effect linked to the ABCG1 cholesterol efflux locus.

rs2294008 — PSCA Near gene (promoter)

Chromosome 8 Risk Allele T Category IBD & Mucosal Immunity Gastric Health, H. pylori, Cancer Risk, Bladder Cancer, Digestive Health

Regulatory variant in the PSCA 5′ UTR that recruits the repressor YY1 to the promoter, suppressing PSCA expression in gastric epithelium and increasing susceptibility to diffuse-type gastric cancer and gastric mucosal atrophy