Research — GeneOps

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

rs1800955 — DRD4 -521C>T

Chromosome 11 Risk Allele C Category Mood & Behavior Cognition, Dopamine, Neurotransmitters, Brain Health, Stress

Promoter variant that modulates dopamine D4 receptor expression in the prefrontal cortex, influencing novelty seeking and cognitive flexibility

rs193922239 — FBN1

Chromosome 15 Risk Allele G Category Cardiomyopathy & Structural Heart Cardiovascular, Heart Disease, Connective Tissue, Genetic Counseling, Carrier Status, Extracellular Matrix

Pathogenic missense variant in fibrillin-1 replacing glycine 2627 with arginine in a calcium-binding EGF-like domain, disrupting microfibril assembly and predisposing heterozygous carriers to Marfan syndrome with aortic root dilation, lens dislocation, and skeletal overgrowth.

rs1943226 — MC4R MC4R third tagSNP

Chromosome 18 Risk Allele G Category Appetite & Obesity Appetite, Obesity, Metabolic, Satiety, Fat Distribution, Energy Metabolism

Upstream regulatory tag variant ~3 kb proximal to MC4R, included in MC4R haplotype studies; appears in a large BMI GWAS at p=1×10⁻²⁶ through LD with the MC4R locus, with no independent obesity association established in direct association studies

rs2046210 — ESR1 ESR1 rs2046210

Chromosome 6 Risk Allele A Category Endometriosis & Uterine Health Endometriosis, Estrogen, Estrogen Metabolism, Reproductive Health, Women's Health, Breast Cancer

Promoter-region variant upstream of estrogen receptor alpha (ESR1) at 6q25.1; the A allele increases ESR1 transcription and is associated with elevated endometriosis risk, endometrial cancer susceptibility, and breast cancer risk across multiple populations

rs2066844 — NOD2 R702W

Chromosome 16 Risk Allele T Category IBD & Mucosal Immunity Innate Immunity, Gut Microbiome, Inflammatory Bowel Disease, Ileal Health, Bacterial Sensing, Paneth Cells

Missense variant in the NOD2 gene that increases Crohn's disease risk, particularly ileal disease, by impairing bacterial peptidoglycan recognition