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rs6910071 — TSBP1
Chromosome 6 Risk Allele G Category Interferon Signaling & Systemic Autoimmune HLA, Rheumatoid Arthritis, Autoimmune, Inflammation, MHC Antigen Presentation, Immune & Autoimmune

MHC-region intronic variant tagging HLA-DRB1 shared epitope haplotypes; G allele is the primary GWAS signal for seropositive rheumatoid arthritis and polymyalgia rheumatica risk in Europeans

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rs738409 — PNPLA3 I148M
Chromosome 22 Risk Allele G Category Liver Fat Fat Metabolism, Triglycerides, Diet, Alcohol, Cancer Risk, Liver Health, Diabetes

Strongest genetic risk factor for non-alcoholic fatty liver disease, progression to cirrhosis, and hepatocellular carcinoma

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rs12659 — SLC19A1
Chromosome 21 Risk Allele A Category Methylation & Detox Methylation, Folate, B Vitamins, Drug Metabolism, Cancer Risk

Synonymous variant in the folate transporter SLC19A1 — a haplotype tag linked to altered methotrexate response

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rs12752133 — GBA
Chromosome 1 Risk Allele T Category Neurology & Cognition Parkinson's, Neurodegeneration, Neurological Risk, Sleep, Autophagy, Brain Health

Intronic GBA variant associated with REM sleep behavior disorder via lysosomal autophagy impairment; the T allele confers OR=2.09 for RBD in the largest GWAS of this condition to date

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rs12936231 — ORMDL3 ORMDL3 17q21 eQTL
Chromosome 17 Risk Allele C Category Allergy & Atopic Disease Asthma, Lung Health, Innate Immunity, Inflammation, Vitamin D, Autoimmune

Regulatory tagging SNP in the 17q21 asthma locus that is the strongest eQTL for ORMDL3 in whole blood; the C allele increases ORMDL3 expression and confers childhood asthma and early wheeze susceptibility

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rs13266634 — SLC30A8 Arg325Trp (C>T)
Chromosome 8 Risk Allele C Category Blood Sugar & Diabetes Zinc, Insulin, Diabetes, Diet, Cardiovascular

Zinc transporter 8 variant affecting zinc loading into insulin granules, influencing insulin crystallization, secretion, and type 2 diabetes risk

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rs16861205 — ADIPOQ
Chromosome 3 Risk Allele A Category Fat Storage & Energy Insulin Resistance, Adipogenesis, Fat Metabolism, Metabolic Health, Omega-3, Nutrition & Metabolism

Intronic ADIPOQ variant in LD with the promoter region; the minor A allele is associated with reduced circulating adiponectin in women and altered adiponectin dynamics during weight loss

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rs174616 — FADS2 FADS2 Haplotype Block Variant
Chromosome 11 Risk Allele A Category Triglycerides & Fatty Acids Omega-3, Fat Metabolism, Cardiovascular, Diet, Inflammation, Brain Health

Intronic FADS2 variant tagging the FADS1/FADS2 haplotype block; A allele carriers have reduced delta-6 desaturase activity, impairing conversion of dietary plant-based omega-3 (ALA) to EPA/DHA and omega-6 (LA) to arachidonic acid

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rs1799853 — CYP2C9 *2
Chromosome 10 Risk Allele T Category Pharmacogenomics Drug Metabolism, Warfarin, Pain Medication, Cannabis, Endocannabinoid

Decreased function variant affecting warfarin, phenytoin, and NSAIDs

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rs1800624 — AGER -374T/A
Chromosome 6 Risk Allele T Category Hormones & Sleep Inflammation, Aging, Oxidative Stress, Diabetes, Cardiovascular, Sleep

Promoter variant in the AGER gene that increases RAGE transcription approximately threefold, raising both membrane-bound and soluble RAGE; the elevated RAGE expression amplifies AGE-driven inflammatory signaling and is associated with diabetic microvascular complications and coronary artery ectasia

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