Research — GeneOps

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 in people with impaired glucose tolerance

rs17228212 — SMAD3

Chromosome 15 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Cardiovascular, Atherosclerosis, Inflammation, Fibrosis, Heart Disease

Intronic variant in the TGF-beta signaling gene SMAD3 associated with vascular smooth muscle cell regulation and variable coronary artery disease risk across populations

rs174537 — FADS1

Chromosome 11 Risk Allele G Category Triglycerides & Fatty Acids Omega-3, Fat Metabolism, Cardiovascular, Triglycerides, Diet

Regulatory variant in the FADS1 locus that controls delta-5 desaturase expression, altering conversion of omega-6 and omega-3 precursors to long-chain PUFAs; the G allele drives higher arachidonic acid and cardiovascular risk while the T allele impairs EPA synthesis from plant-based omega-3

rs1800407 — OCA2 Arg419Gln

Chromosome 15 Risk Allele T Category Skin & Eyes Skin & Eyes, Eye Color, Pigmentation, Melanin, Skin Cancer, UV Protection

Eye color modifier gene influencing green and hazel eye color through melanosome pH regulation

rs1831281 — CFH

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

Intronic CFH variant that tags the complement-risk haplotype; the C allele (common, ~80% in Europeans) marks impaired complement regulation driving AMD and systemic inflammation, while the T allele is protective

rs1898830 — TLR2

Chromosome 4 Risk Allele A Category Innate Immunity & Infection Defense TLR Signaling, Autoimmune, Inflammation, Bacterial Sensing, Cardiovascular, Infectious Disease

Intronic TLR2 variant that modulates innate immune signaling intensity; G allele reduces TLR2 pathway activity and is protective against periodontitis, while the common A allele sustains higher TLR2 activation linked to cardiovascular risk markers and autoimmune inflammation

rs193922680 — ACTC1 ACTC1 p.Glu101Lys

Chromosome 15 Risk Allele T Category Cardiomyopathy & Structural Heart Cardiovascular, Heart Disease, Genetic Counseling, Congenital, Carrier Status, Muscle

Pathogenic missense variant in cardiac alpha-actin that causes hypertrophic cardiomyopathy, left ventricular noncompaction, and septal defects through impaired sarcomeric force generation.

rs1971256 — CCDC170 CCDC170/ESR1 Endometriosis Estrogen Signaling Variant

Chromosome 6 Risk Allele C Category Endometriosis & Uterine Health Endometriosis, Estrogen, Fertility, Reproductive Health, Women's Health, Hormones

Intronic variant in CCDC170 at the 6q25.1 estrogen-signaling locus; the C allele increases endometriosis risk (OR 1.09) and has been independently replicated across European, East Asian, and Taiwanese-Han populations

rs2104286 — IL2RA

Chromosome 10 Risk Allele T Category Autoimmune Tolerance & T-Cell Regulation Immune & Gut, Autoimmune, Type 1 Diabetes, Inflammation, Vitamin D, Immune & Autoimmune

Intronic variant affecting IL-2 receptor alpha chain expression and soluble IL-2RA shedding — impairs T-regulatory cell signaling and increases autoimmune disease susceptibility

rs2105325 — LOC100506023 LOC100506023 rs2105325

Chromosome 1 Risk Allele C Category TNF, NF-kB & Inflammatory Cytokines Autoimmune, Rheumatoid Arthritis, Inflammation, Immune System, T-Cell Regulation

Intronic variant in LOC100506023 (PRDX6-AS1) and TNFSF4 at the 1q25.1 locus, where the common C allele is associated with modestly increased rheumatoid arthritis risk across diverse populations