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rs987237 — TFAP2B
Chromosome 6 Risk Allele G Category Appetite & Obesity Fat Metabolism, Diet, Obesity, Cardiovascular

Adipocyte transcription factor variant influencing central fat distribution and modifying weight-loss response to dietary fat

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rs1898671 — TSLP TSLP Intronic Variant (Atopic Dermatitis)
Chromosome 5 Risk Allele C Category Allergy & Atopic Disease Autoimmune, Inflammation, Asthma, Skin Health, Immune Function

Intronic TSLP variant that modulates thymic stromal lymphopoietin activity, with T allele carriers showing milder, less persistent atopic dermatitis and reduced need for immunosuppressive treatment

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rs2274319 — MEF2D
Chromosome 1 Risk Allele C Category Neurology & Cognition Migraine, Neuroplasticity, Brain Health, Neurotransmitters, Pain Sensitivity, Cognition

Intronic variant in MEF2D encoding a key neuronal transcription factor that regulates excitatory synapse development and neuronal survival; the C allele is associated with increased migraine susceptibility in the largest migraine GWAS to date (OR=1.075, P=3.0E-41, 102,084 cases) and is thought to subtly alter MEF2D expression in cortical and trigeminal neurons, modulating synaptic excitability thresholds

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rs2466293 — SLC30A8 SLC30A8 Islet Zinc Regulation Variant
Chromosome 8 Risk Allele G Category Blood Sugar & Diabetes Zinc, Insulin, Diabetes, Insulin Resistance, Metabolic Health, Women's Health

3'UTR variant in the zinc transporter ZnT8 gene that disrupts miRNA binding sites, altering ZnT8 expression in pancreatic beta cells and influencing type 2 diabetes, type 1 diabetes, and gestational diabetes risk

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rs28371706 — CYP2D6 *17
Chromosome 22 Risk Allele A Category Pharmacogenomics Drug Metabolism, Antidepressants, Pain Medication, Ancestry-Specific, Pharmacogenomics

Decreased-function CYP2D6 allele common in African populations, reducing metabolism of antidepressants, antipsychotics, opioids, and tamoxifen

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rs34714364 — APH1A APH1A gamma-secretase variant
Chromosome 1 Risk Allele T Category Hormones & Sleep Chronotype, Circadian, Sleep, Alzheimer's, Neurodegeneration, Melatonin

Synonymous variant in CA14 near APH1A; T allele is associated with morning chronotype (OR=1.12) and tags regulatory variation at the gamma-secretase locus, linking circadian preference to APP cleavage biology and Alzheimer's sleep pathology risk

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rs3774261 — ADIPOQ ADIPOQ rs3774261
Chromosome 3 Risk Allele G Category Fat Storage & Energy Adipogenesis, Insulin Resistance, Triglycerides, Cardiovascular, Metabolic, Fat Metabolism

Intronic ADIPOQ variant that reduces circulating adiponectin levels in G allele carriers, blunting insulin sensitization, fatty acid oxidation, and lipid-lowering response to caloric restriction

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rs551397 — CFH
Chromosome 1 Risk Allele C Category Longevity & Aging Complement System, Eye Health, Aging, Inflammation, Immune System, Longevity

Intronic CFH variant that tags the AMD-risk haplotype; the C allele tracks complement dysregulation and elevated AMD susceptibility, while the T allele is protective

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rs6902123 — PPARD
Chromosome 6 Risk Allele C Category Fitness & Body Fat Metabolism, Exercise, Liver, Insulin, Diet

Intronic PPARD variant that independently impairs hepatic fat mobilization during lifestyle intervention; C-allele carriers show smaller reductions in liver fat regardless of how much total body fat they lose, linking this locus specifically to ectopic liver lipid regulation rather than general adiposity

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rs7664413 — VEGFC
Chromosome 4 Risk Allele T Category Innate Immunity & Infection Defense Lymphatic, Lipedema, Fat Metabolism, Cardiovascular, Inflammation, Women's Health

Intronic variant in the primary lymphangiogenesis growth factor gene associated with elevated lymphedema risk and impaired lymphatic vascular support

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