Research — GeneOps

rs3091244 — CRP -286C>T>A

Chromosome 1 Risk Allele T Category Vascular Inflammation & Remodeling Inflammation, Cardiovascular, Inflammaging, Biomarkers, Heart Disease

Triallelic promoter variant that strongly influences basal CRP transcription; the T (coding) and A (coding) alleles both increase CRP expression, with the A allele having the largest effect on circulating CRP levels

rs377022708 — ACAD9 Arg532Trp (R532W)

Chromosome 3 Risk Allele T Category Metabolic Enzymes & Rare Disorders Mitochondria, Energy Metabolism, Cardiovascular, Fat Metabolism, Carrier Status, B Vitamins

Pathogenic missense variant in the ACAD9 complex I assembly factor causing severe mitochondrial energy failure; the original riboflavin-responsive ACAD9 allele first identified by Gerards et al. 2011, producing hypertrophic cardiomyopathy, exercise intolerance, and lactic acidosis in homozygous or compound heterozygous carriers.

rs397516406 — MYL2 G162E (Gly162Glu)

Chromosome 12 Risk Allele T Category Cardiomyopathy & Structural Heart Cardiovascular, Heart Disease, Genetic Counseling, Biomarkers, Congenital, Muscle

Pathogenic missense variant in the ventricular regulatory myosin light chain gene causing familial hypertrophic cardiomyopathy with ~75% penetrance

rs41380347 — MCM6 G-13915T

Chromosome 2 Risk Allele A Category Vitamins & Nutrient Absorption Lactose, Food Sensitivity, Diet, Ancestry-Specific, Micronutrients, Gut Health

East African lactase persistence allele — MCM6 enhancer SNP that independently maintains LCT expression in Oromo, Somali, Beja, and related pastoral populations

rs4149268 — ABCA1

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

Intronic ABCA1 variant — the C allele tags a liver enhancer that boosts ABCA1 expression, raising HDL-cholesterol; T-allele homozygotes show modestly lower HDL and elevated cognitive decline risk

rs4648127 — NFKB1 NFKB1 intronic variant

Chromosome 4 Risk Allele C Category Innate Immunity & Infection Defense Innate Immunity, Immune System, Infectious Disease, Inflammation, Cancer Risk, Lung Health

Rare protective intronic variant in the master immune transcription factor NF-κB1; the T allele is associated with reduced lung cancer susceptibility and altered innate immune signaling

rs4702 — FURIN proBDNF Processing Variant

Chromosome 15 Risk Allele G Category Mood & Behavior Neuroplasticity, Brain Health, Mood, Anxiety, Depression, Serotonin

A 3'UTR regulatory variant where the G allele creates a miR-338-3p binding site that suppresses FURIN expression, reducing cleavage of proBDNF to mature BDNF and shifting neurotrophin signaling toward pro-apoptotic pathways

rs4958847 — IRGM

Chromosome 5 Risk Allele A Category IBD & Mucosal Immunity Autophagy, Crohn's Disease, Inflammatory Bowel Disease, Immune & Gut, Autoimmune, Inflammation

Intronic IRGM variant that impairs autophagy-mediated clearance of intracellular bacteria, raising risk for Crohn's disease — particularly ileal disease and fistulizing complications

rs4977574 — CDKN2B-AS1 9p21.3

Chromosome 9 Risk Allele G Category Coronary Artery Disease & Atherosclerosis Cardiovascular, Atherosclerosis, Diet, Cholesterol, Longevity

Independent 9p21.3 CAD risk signal in ANRIL; G allele elevates coronary artery disease risk ~30% per allele and is specifically amplified by sugar-sweetened beverage intake while vegetable intake attenuates risk

rs61751290 — VWF c.7437+1G>T

Chromosome 12 Risk Allele T Category Von Willebrand & Anticoagulant Proteins Blood Clotting, Cardiovascular, Carrier Status, Thrombosis, Genetic Counseling, Thrombophilia

Splice donor variant in VWF intron 43 that destroys the canonical GT dinucleotide; predicted high-confidence loss-of-function associated with reduced VWF levels and type 1 von Willebrand disease in heterozygous carriers