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rs2851301 — ADH5 ADH5 Second NF-kB Site Variant
Chromosome 4 Risk Allele C Category Allergy & Atopic Disease Asthma, Inflammation, Nitric Oxide, Lung Health, Oxidative Stress, Detoxification

Upstream promoter variant in ADH5 at a potential NF-kB binding site; the minor T allele is proposed to disrupt NF-kB-driven GSNOR transcription, reducing S-nitrosoglutathione catabolism and providing protection against childhood asthma

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rs3785883 — MAPT H1h Sub-haplotype Tag
Chromosome 17 Risk Allele A Category Neurology & Cognition Neurological Risk, Parkinson's, Tau Pathology, Brain Health, Aging, Dementia

Intronic MAPT variant whose A allele defines the H1h sub-haplotype — a configuration distinct from H1c — independently associated with non-tremor dominant Parkinson's disease at OR 2.9 after Bonferroni correction, and sharing no meaningful linkage disequilibrium with the H1c-defining markers rs242557 or rs2471738 (r² ≈ 0.01)

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rs4149056 — SLCO1B1 *5
Chromosome 12 Risk Allele C Category Pharmacogenomics Drug Metabolism, Statins, Cardiovascular, Liver, Bilirubin

Statin transport - affects muscle side effect risk with statins

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rs4680 — COMT Val158Met
Chromosome 22 Risk Allele A Category Methylation & Detox Methylation, Neurotransmitters, Detoxification, Dopamine, Mood, Mental Health, Pain

Dopamine/catecholamine breakdown — affects stress response and methyl donor tolerance

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rs587777380 — DYRK1B H90P / H90R
Chromosome 19 Risk Allele G Category Blood Sugar & Diabetes Diabetes, Obesity, Metabolic Syndrome, Cardiovascular, Insulin Resistance, Fat Distribution

Multi-allelic pathogenic locus — both H90P (T>G) and H90R (T>C) disrupt the DYRK1B DH box, causing AOMS3 (early-onset central obesity, type 2 diabetes, hypertension, coronary artery disease) via impaired kinase maturation

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rs6885099 — PDE8B PDE8B TSH variant
Chromosome 5 Risk Allele G Category Hormones & Sleep Thyroid, Hormones & Thyroid, Hormones, Metabolism, Cardiovascular

Intronic TSH quantitative trait locus in phosphodiesterase 8B — the G allele raises the thyroid set-point, increasing hypothyroidism risk and potentially affecting levothyroxine dose requirements

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rs9951026 — LIPG
Chromosome 18 Risk Allele A Category Triglycerides & Fatty Acids Fat Metabolism, Cholesterol, Cardiovascular, Triglycerides, HDL Cholesterol

Intronic LIPG variant that tags a haplotype associated with higher LDL cholesterol and apolipoprotein B, with effects on lipid profiles that are substantially modified by physical activity

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rs2872507 — IKZF3
Chromosome 17 Risk Allele A Category Allergy & Atopic Disease Autoimmune, Inflammation, Immune System, Asthma, Crohn's Disease, Type 1 Diabetes

17q21 regulatory variant in the IKZF3-ORMDL3-GSDMB locus with opposite effects — risk for autoimmune diseases (RA, Crohn's, Graves') but protective for asthma

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rs3851179 — PICALM
Chromosome 11 Risk Allele C Category Neurology & Cognition Alzheimer's, Neurological Risk, Cardiovascular

Variant in the PICALM gene affecting amyloid-beta clearance across the blood-brain barrier and Alzheimer's disease risk

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rs4244285 — CYP2C19 *2
Chromosome 10 Risk Allele A Category Pharmacogenomics Drug Metabolism, Blood Thinners, Proton Pump Inhibitors, Antidepressants

No-function CYP2C19 variant affecting PPIs, clopidogrel, and some antidepressants

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