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rs10093345 — EIF4EBP1 EIF4EBP1 rs10093345
Chromosome 8 Risk Allele T Category Endometriosis & Uterine Health Ovarian Reserve, Fertility, Reproductive Health, mTOR Pathway, Hormones, Women's Health

Intergenic GWAS locus near EIF4EBP1 (encoding the mTOR translation repressor 4E-BP1) where the T allele is associated with modestly lower circulating anti-Müllerian hormone (AMH), a key biomarker of ovarian reserve and fertility timing

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rs1010 — VAMP8 VAMP8 3'UTR Variant
Chromosome 2 Risk Allele C Category Von Willebrand & Anticoagulant Proteins Blood Clotting, Cardiovascular, Heart Disease, Thrombosis, Aspirin Response, Thrombophilia

Common 3'UTR variant in VAMP8 associated with modestly elevated myocardial infarction and noncardioembolic stroke risk

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rs10150332 — NRXN3
Chromosome 14 Risk Allele C Category Appetite & Obesity Obesity, Appetite, Neurotransmitters, Addiction, Fat Metabolism, Brain Health

Obesity and waist circumference GWAS hit in NRXN3 — links reward-circuit synaptic function to appetite dysregulation and addictive eating patterns

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rs1017861 — CHD7 CHD7 AIS susceptibility locus
Chromosome 8 Risk Allele G Category Innate Immunity & Infection Defense Innate Immunity, Embryo Development, Bone & Joint, Infection Risk, Immune System, Sensorineural

Intronic variant in CHD7, a chromatin remodeler critical for neural crest cell and skeletal development; the G allele is associated with susceptibility to adolescent idiopathic scoliosis

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rs10183486 — TLK1
Chromosome 2 Risk Allele T Category Gamete Quality & DNA Repair Ovarian Reserve, Fertility, Reproductive Health, Menopause, DNA Repair

Intronic variant in TLK1 (tousled like kinase 1), a DNA-damage-repair and chromatin-assembly kinase; each copy of the T allele may be associated with earlier age at natural menopause by approximately 10 weeks, suggesting a modest influence on ovarian reserve and reproductive lifespan

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rs10206753 — IL1RL1 IL1RL1 TIR Domain Risk Haplotype
Chromosome 2 Risk Allele T Category Allergy & Atopic Disease Asthma, Inflammation, Biologic Therapy, Innate Immunity, Immune System, Autoimmune

Missense variant in IL1RL1 encoding the Leu551Ser amino acid change in the intracellular TIR signaling domain; the T (Leu551) allele tags a four-amino-acid risk haplotype that amplifies IL-33/ST2 receptor signaling, increasing susceptibility to asthma and chronic rhinosinusitis

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rs1024611 — CCL2 A-2518G
Chromosome 17 Risk Allele G Category Vascular Inflammation & Remodeling Atherosclerosis, Cardiovascular, Inflammation, Innate Immunity, Immune Response, Infection Risk

Promoter variant that increases CCL2 (MCP-1) transcription, amplifying monocyte recruitment to arterial walls and elevating atherosclerotic plaque risk

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rs10305420 — GLP1R Pro7Leu
Chromosome 6 Risk Allele T Category Pharmacogenomics Drug Response, Diabetes, Obesity, Pharmacogenomics

GLP-1 receptor signal peptide variant that enhances semaglutide and tirzepatide weight loss efficacy but increases nausea and vomiting risk

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rs1036477 — FBN1
Chromosome 15 Risk Allele G Category Cardiomyopathy & Structural Heart Cardiovascular, Connective Tissue, Extracellular Matrix, Heart Disease, Blood Pressure, Inflammation, Aortic Wall

Deep intronic FBN1 variant associated with larger ascending aortic dimensions and elevated risk of thoracic aortic aneurysm and dissection through altered fibrillin-1 microfibril function and dysregulated TGF-β sequestration in the aortic wall

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rs1042602 — TYR S192Y
Chromosome 11 Risk Allele A Category Skin & Eyes Skin Pigmentation, Melanoma, Sun Sensitivity, Pigmentation Genes, Cancer Risk

Common tyrosinase variant affecting melanin production, skin pigmentation, tanning ability, freckling, and melanoma risk

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