Research — GeneOps

rs12133641 — IL6R IL-6 receptor intronic variant

Chromosome 1 Risk Allele G Category Allergy & Atopic Disease Autoimmune, Inflammation, Skin Health, Immune Response, Biologic Therapy

Deep intronic IL6R variant associated with atopic dermatitis risk and systemic IL-6 signaling, with the G allele elevating eczema risk while reducing inflammatory cardiovascular markers through altered IL-6 receptor expression or splicing

rs12686004 — ABCA1

Chromosome 9 Risk Allele A Category Cholesterol & Lipoproteins Fat Metabolism, Cholesterol, Cardiovascular, HDL Cholesterol

Intronic ABCA1 variant associated with population differences in HDL cholesterol capacity; the A allele tags reduced cholesterol efflux activity and lower HDL in carriers

rs12979860 — IFNL4

Chromosome 19 Risk Allele T Category Pharmacogenomics Innate Immunity, Inflammation, Infectious Disease, Interferon, Immune & Autoimmune

Intronic variant in IFNL4 — the strongest host genetic predictor of hepatitis C spontaneous clearance and treatment response, controlling interferon lambda antiviral immunity

rs149007883 — NFKBIZ NFKBIZ p.Gly102Ala

Chromosome 3 Risk Allele C Category Hormones & Sleep Thyroid, Autoimmune, T-Cell Regulation, Hormones & Thyroid, Inflammation, Immune & Autoimmune

Rare protective missense variant in the NF-kB inhibitor zeta gene that reduces Th17-driven autoimmune thyroid inflammation and lowers hypothyroidism risk

rs17147230 — IL6

Chromosome 7 Risk Allele T Category Longevity & Aging Inflammation, Longevity, Liver Health, Cancer Risk, Inflammaging

Near-gene upstream variant in IL6 associated with hepatocellular carcinoma risk through altered interleukin-6 regulation — an independent inflammaging signal

rs17219084 — FTO

Chromosome 16 Risk Allele G Category Fitness & Body Obesity, Metabolic, Fat Metabolism, Appetite, Exercise, Diet

FTO intron variant in the extended obesity-associated region, with exploratory association with Alzheimer's disease risk through metabolic pathways

rs174548 — FADS1

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

Intronic regulatory variant in FADS1 that reduces delta-5 desaturase expression, impairing conversion of linoleic acid to arachidonic acid and ALA to EPA — one of the strongest GWAS hits for plasma PUFA levels.

rs17576 — MMP9 MMP9 Q279R

Chromosome 20 Risk Allele A Category Coronary Artery Disease & Atherosclerosis Atherosclerosis, Cardiovascular, Extracellular Matrix, Inflammation, Cerebrovascular, Heart Disease

Missense variant in the MMP9 fibronectin type II domain affecting matrix metalloproteinase-9 substrate binding; the A allele (Gln279) is associated with altered plaque remodeling dynamics, increased intracranial atherosclerotic stenosis risk, and higher ischemic stroke susceptibility compared with the Arg279 (G allele) form

rs17697419 — VEGFC

Chromosome 4 Risk Allele G Category Vascular Inflammation & Remodeling Cardiovascular, Diabetes, Inflammation, Retinal Health

Intronic variant in the primary lymphangiogenesis growth factor gene; the minor A allele is protective against diabetic retinopathy and diabetic macular edema, reducing risk by ~33%

rs1799958 — ACADS G209S (c.625G>A)

Chromosome 12 Risk Allele A Category Metabolic Enzymes & Rare Disorders Fat Metabolism, Mitochondria, Metabolic, Energy Metabolism, Carrier Status

Common missense variant in ACADS encoding short-chain acyl-CoA dehydrogenase; the A allele (Gly209Ser) reduces SCAD enzyme activity and is associated with mildly elevated butyrylcarnitine (C4) on newborn screening, but is classified as benign to likely-benign and is not a cause of clinical SCAD deficiency