Research — GeneOps

rs12510549 — SLC2A9

Chromosome 4 Risk Allele T Category Uric Acid & Kidney Function Uric Acid, Gout, Kidney Function, Renal Function, Diet

Intergenic variant in the SLC2A9 urate-transporter locus — the C allele is associated with lower serum uric acid levels and reduced gout risk

rs12624433 — SLC12A5 KCC2 Chloride Transport

Chromosome 20 Risk Allele A Category Mood & Behavior Mood, Neurotransmitters, Anxiety, Depression, Mental Health, Stress Response

Intronic variant in SLC12A5 reducing KCC2 potassium-chloride cotransporter function, shifting GABA signaling from inhibitory to excitatory and increasing risk for depression and anxiety

rs12700667 — 7p15.2 (near HOXA10/HOXA11)

Chromosome 7 Risk Allele A Category Endometriosis & Uterine Health Endometriosis, Reproductive Health, Fertility, Inflammation, Hormones, Women's Health

Intergenic GWAS locus upstream of homeobox genes HOXA10 and HOXA11 that may influence their regulation; carrying the A allele is associated with increased risk of endometriosis, particularly moderate-to-severe disease

rs12722489 — IL2RA

Chromosome 10 Risk Allele C Category Autoimmune Tolerance & T-Cell Regulation Immune & Gut, Immune & Autoimmune, Autoimmune, Type 1 Diabetes, Inflammation, Estrogen

Intronic variant in IL2RA intron 1 that creates an estrogen-responsive enhancer element — the risk C allele allows estrogen receptor alpha binding and increases IL2RA transcription, altering T-regulatory cell function and autoimmune disease susceptibility

rs12734494 — SLC30A1

Chromosome 1 Risk Allele A Category Vitamins & Nutrient Absorption Zinc, Minerals, Micronutrients, Immune Function, Vitamins, Ancestry-Specific

Intergenic variant near SLC30A1 (ZnT1), the primary basolateral zinc exporter in intestinal enterocytes; the A allele is markedly less common in East Asian populations (7.6%) than in European (49.4%) or African (42.7%) populations, suggesting population-specific selective pressure on zinc transport efficiency.

rs12740374 — SORT1 1p13.3 locus

Chromosome 1 Risk Allele G Category Coronary Artery Disease & Atherosclerosis Cholesterol, Cardiovascular, Lipid Metabolism, LDL Cholesterol, Heart Disease, Diet

Regulatory variant that increases sortilin expression, lowering LDL cholesterol and cardiovascular risk

rs13193677 — TRAF3IP2

Chromosome 6 Risk Allele A Category Psoriasis & Spondyloarthropathy Immune & Gut, Autoimmune, Inflammation, Lupus, Cardiovascular

Intronic variant near the TRAF3IP2 locus (annotated in IPCEF1 at chr6q25.2 by dbSNP, 43 Mb distal) that was genotyped alongside TRAF3IP2 coding variants in SLE studies; the A allele is independently associated with SLE susceptibility (OR=1.73, P=0.046) and SLE pericarditis in the Ciccacci 2013 Italian cohort — completing the three-SNP TRAF3IP2/locus panel

rs1426654 — SLC24A5 Ala111Thr

Chromosome 15 Risk Allele A Category Skin & Eyes Skin Pigmentation, Ancestry, Vitamin D, Sun Sensitivity, Melanoma Risk, UV Protection

Sodium/potassium/calcium exchanger that regulates melanin production in skin cells

rs150090666 — PDE3B PDE3B R783X

Chromosome 11 Risk Allele T Category Triglycerides & Fatty Acids Lipid Metabolism, Fat Distribution, Cardiovascular, HDL Cholesterol, Triglycerides, Metabolic

Loss-of-function variant in phosphodiesterase 3B — carriers have enhanced cAMP-mediated lipolysis, higher HDL cholesterol, lower triglycerides, and reduced cardiovascular disease risk

rs17249754 — ATP2B1

Chromosome 12 Risk Allele G Category Blood Pressure & Hypertension Blood Pressure, Cardiovascular, Hypertension, Salt Sensitivity, Calcium

Intronic variant in the ATP2B1 calcium pump gene; the common G allele reduces PMCA1 expression in vascular tissue, impairing calcium efflux and raising blood pressure — one of the most replicated blood pressure GWAS loci across Asian and European populations