Research — GeneOps

rs3734398 — ELOVL2

Chromosome 6 Risk Allele C Category Triglycerides & Fatty Acids Omega-3, Lipid Metabolism, Cardiovascular, Aging, Supplement

3' UTR variant in the ELOVL2 elongase gene that reduces DHA synthesis from its precursor DPA, lowering baseline plasma DHA in C-allele carriers

rs3758391 — SIRT1

Chromosome 10 Risk Allele T Category Longevity & Aging Longevity, Aging, Oxidative Stress, Neuroprotection, NAD+ Metabolism, Insulin Resistance

Promoter-region variant in SIRT1 affecting deacetylase expression; T allele elevates SIRT1 levels and is associated with better cognition but increased metabolic and cancer risk; C allele is the common protective form

rs4753426 — MTNR1B

Chromosome 11 Risk Allele C Category Hormones & Sleep Sleep, Melatonin, Circadian, Chronotype, Diabetes, Insulin

Promoter variant in the melatonin receptor 1B gene that alters MTNR1B expression, affecting circadian rhythm, morningness chronotype, and fasting glucose through impaired insulin secretion

rs73015965 — PLG Lys38Glu (K38E)

Chromosome 6 Risk Allele G Category Innate Immunity & Infection Defense Innate Immunity, Infection Risk, Fibrinolysis, Blood Clotting, Hearing Loss, Carrier Status, Thrombophilia

Missense variant in plasminogen that reduces fibrinolytic activity and impairs fibrin clearance from mucosal surfaces, causing ligneous (woody) pseudomembrane formation and dramatically increasing risk for chronic otitis media and other mucous membrane inflammation

rs78060698 — FUT6

Chromosome 19 Risk Allele G Category Vitamins & Nutrient Absorption B Vitamins, Vitamin B12, Microbiome, Gut Microbiome, Methylation

Intronic regulatory variant in FUT6 that alters HNF4α binding and fucosyltransferase expression, influencing intestinal fucosylation and circulating vitamin B12 levels — especially relevant in South Asian populations

rs956572 — BCL2

Chromosome 18 Risk Allele A Category Mood & Behavior Brain Health, Mental Health, Neuroprotection, Mood, Calcium, Apoptosis, Neuroplasticity

Intronic variant in the anti-apoptotic gene BCL2 that affects BCL2 expression levels, intracellular calcium homeostasis, and rate of age-related gray matter loss in key brain regions

rs9818870 — MRAS

Chromosome 3 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Cardiovascular, Inflammation, Statins

3' UTR variant near miRNA binding sites in MRAS, associated with ~15% increased coronary artery disease risk through altered vascular smooth muscle cell signaling

rs181949335 — TMPRSS3 p.Ala306Thr (A306T)

Chromosome 21 Risk Allele T Category Neurology & Cognition Hearing Loss, Sensorineural, Carrier Status, Congenital

Hypomorphic missense variant in the TMPRSS3 serine protease catalytic domain; the most common TMPRSS3 pathogenic allele worldwide, causing DFNB8 progressive or DFNB10 congenital hearing loss depending on the second allele; a founder mutation in Korean and Chinese populations

rs2040704 — RAD50 RAD50/IL13 5q31 Atopic March Locus

Chromosome 5 Risk Allele G Category Allergy & Atopic Disease Asthma, Autoimmune, Inflammation, Immune Response, Skin Health, Lung Health

Intronic variant in the RAD50/TH2LCRR region at 5q31.1 that tags an enhancer hub coordinating IL-4, IL-5, and IL-13 expression; the G allele is associated with elevated serum IgE and increased susceptibility to the atopic march (eczema → food allergy → asthma → allergic rhinitis) through amplified Th2 cytokine output

rs2070744 — NOS3 T-786C promoter

Chromosome 7 Risk Allele C Category Methylation & Detox Cardiovascular, Nitric Oxide, Detoxification, Histamine

NOS3 expression - controls how much eNOS enzyme is produced for nitric oxide synthesis