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rs3129934 — HLA-DRB5 DR15 haplotype tag
Chromosome 6 Risk Allele T Category Neurology & Cognition Immune & Gut, Immune & Autoimmune, HLA, Neuroinflammation, Autoimmunity, Sleep

Tag SNP for HLA-DRB5*01:01 on the DR15 susceptibility haplotype, physically near HLA-DRB5 in the MHC region and in near-complete LD with rs3135388; the DRB5*01:01 allele contributes independently to multiple sclerosis and narcolepsy risk by presenting myelin and viral peptides to autoreactive CD4+ T cells

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rs366631 — GSTM1 Tag SNP for gene deletion
Chromosome 1 Risk Allele A Category Methylation & Detox Detoxification, Glutathione, Phase II, Oxidative Stress, Xenobiotics, Diet, Carcinogen Metabolism, NRF2 Target

Tag SNP proxy for GSTM1 gene deletion status — the most common pharmacogenomic variant worldwide, eliminating a Phase II detoxification enzyme that conjugates glutathione to environmental carcinogens

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rs373489637 — CYP2B6 V183G
Chromosome 19 Risk Allele G Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, HIV Treatment, Pain Medication, Antidepressants

Near-complete loss-of-function CYP2B6 variant causing severely impaired metabolism of efavirenz, bupropion, methadone, and other CYP2B6 substrates

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rs4607517 — GCK GCK fasting glucose GWAS variant
Chromosome 7 Risk Allele A Category Blood Sugar & Diabetes Fasting Glucose, Pancreatic Beta Cell, Diabetes, Insulin, Energy Metabolism, Metabolic Health

Common intronic variant near glucokinase that raises fasting glucose by impairing the pancreatic glucose-sensing threshold; each A allele adds ~0.062 mmol/L to fasting glucose and modestly reduces beta-cell function

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rs4746 — GLO1 Glu111Ala
Chromosome 6 Risk Allele G Category Hormones & Sleep Sleep, Anxiety, Neurotransmitters, Oxidative Stress, Mood

Missense variant in glyoxalase 1 reducing enzyme activity, allowing methylglyoxal to accumulate — a GABA-A receptor modulator that influences anxiety and sleep quality

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rs5085 — APOA2 APOA2 rs5085
Chromosome 1 Risk Allele G Category Triglycerides & Fatty Acids Fat Metabolism, Diet, Obesity, Cardiovascular, Satiety, Metabolic

Intronic APOA2 tag SNP that captures the saturated fat-weight gain interaction — G allele carriers gain more weight on high saturated fat diets due to reduced APOA2-mediated satiety signaling

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rs6954668 — SFRP5 SFRP5 Wnt5a inhibitor variant
Chromosome 7 Risk Allele A Category Fat Storage & Energy Adipogenesis, Obesity, Inflammation, Cardiovascular, Metabolic Health

Intergenic variant near the SFRP5 adipokine locus; the A allele is strongly enriched in African ancestry (~19% MAF) and absent in East Asian populations, tagging a regulatory region that may influence SFRP5 expression — the anti-inflammatory adipokine that suppresses pro-inflammatory Wnt5a signaling in adipose tissue

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rs9420907 — OBFC1
Chromosome 10 Risk Allele A Category Longevity & Aging Telomere Biology, Aging, Longevity, Cancer Risk, Cardiovascular, DNA Repair

Intronic variant in the CST complex component STN1/OBFC1 that influences telomere length; the C allele drives longer telomeres and elevated cancer risk while the A allele predisposes to shorter telomeres and accelerated cellular aging

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rs2243250 — IL4 IL4 -589C>T
Chromosome 5 Risk Allele T Category Allergy & Atopic Disease Asthma, Autoimmune, Inflammation, Immune Response, Immune System, Immune & Autoimmune

Promoter polymorphism 589 bases upstream of the IL-4 transcription start site; the T allele enhances NFAT-1 binding, elevates IL-4 transcription, raises serum IgE, and amplifies Th2-skewed immune responses underlying allergic asthma, atopic dermatitis, and allergic rhinitis

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rs3135388 — HLA-DRA Tag for DRB1*15:01
Chromosome 6 Risk Allele A Category Neurology & Cognition Immune & Gut, Immune & Autoimmune, HLA, Vitamin D, Neuroinflammation, Autoimmunity, Multiple Sclerosis, MHC Antigen Presentation

Tag SNP for HLA-DRB1*15:01 (physically located near HLA-DRA), the strongest genetic risk factor for multiple sclerosis, with implications for vitamin D optimization and EBV immune control

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