Research — GeneOps

rs6997709 — KCNK9

Chromosome 8 Risk Allele T Category Arrhythmia & Heart Rhythm Hypertension, Blood Pressure, Cardiovascular, Salt Sensitivity, Heart Disease, Kidney Function

Intergenic variant upstream of KCNK9 (TASK3 potassium channel) associated with elevated systolic blood pressure; the T allele was identified as a suggestive hypertension signal in the Wellcome Trust GWAS and replicated in Korean and European cohorts. KCNK9 encodes a background K⁺ channel in adrenal zona glomerulosa cells that regulates aldosterone secretion.

rs7936142 — CYP2R1 CYP2R1 rs7936142

Chromosome 11 Risk Allele T Category Vitamin D Metabolism Vitamin D, Vitamins, Bone Health, Immune Function, Micronutrients

Intronic variant in the primary hepatic vitamin D 25-hydroxylase gene associated with reduced CYP2R1 expression and lower circulating 25-hydroxyvitamin D concentrations

rs11558538 — HNMT Thr105Ile

Chromosome 2 Risk Allele T Category Methylation & Detox Histamine, Methylation, Detoxification, Neurotransmitters

HNMT structural variant - reduces enzyme stability and histamine clearance in tissues

rs11708067 — ADCY5 ADCY5 Glucose Signaling Variant

Chromosome 3 Risk Allele A Category Blood Sugar & Diabetes Diabetes, Insulin, Energy Metabolism, Metabolic Health, Metabolic Syndrome, Cardiovascular

Intronic regulatory variant that reduces ADCY5 expression in pancreatic islets, impairing glucose-stimulated cAMP production and insulin secretion, and raising fasting glucose and type 2 diabetes risk

rs12053868 — IL1RAP IL1RAP amyloid risk variant

Chromosome 3 Risk Allele G Category Neurology & Cognition Alzheimer's, Neuroinflammation, Neurological Risk, Cognitive Decline, Dementia, Inflammation

Intronic variant in IL1RAP that impairs microglial activation, accelerating brain amyloid accumulation and Alzheimer's disease progression independently of APOE status

rs12251307 — IL2RA IL-2 receptor alpha chain variant

Chromosome 10 Risk Allele T Category Allergy & Atopic Disease Autoimmune, T-Cell Regulation, Inflammation, Type 1 Diabetes, Skin Health, Immune Function

Intergenic variant 19 kb downstream of IL2RA associated with atopic dermatitis (OR 1.10), asthma, and type 1 diabetes risk — tags a regulatory locus controlling CD25 expression and T-regulatory cell homeostasis

rs12490265 — PPARG PPARG Intronic Haplotype Variant

Chromosome 3 Risk Allele G Category Fat Storage & Energy Metabolic Syndrome, Adipogenesis, Insulin Resistance, Metabolic Health, Fat Distribution, Diabetes

Intronic PPARG variant in a metabolic syndrome–associated haplotype block; the A allele is enriched in people without metabolic syndrome and co-segregates with the protective AGCC haplotype across the PPARG locus

rs1341162 — CYP2C8

Chromosome 10 Risk Allele T Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Phase I, Cardiovascular, Cancer Treatment

Intronic CYP2C8 haplotype-tagging variant linked to altered drug metabolism capacity and bisphosphonate-related osteonecrosis of the jaw risk

rs137943601 — LDLR LDLR E408* (Glu408Ter)

Chromosome 19 Risk Allele T Category Cholesterol & Lipoproteins Cholesterol, Cardiovascular, Fat Metabolism, LDL Cholesterol, Atherosclerosis, Statins

Nonsense mutation in the LDLR gene creating a premature stop codon at position 408, abolishing LDL receptor production and causing familial hypercholesterolemia with severely elevated LDL cholesterol and early cardiovascular disease risk

rs1554483 — CLOCK

Chromosome 4 Risk Allele G Category Hormones & Sleep Circadian, Sleep, Obesity, Metabolic, Liver

Intronic CLOCK variant whose G allele, in a haplotype with rs4864548 A, confers a 1.8-fold increased risk of overweight and obesity and is associated with NAFLD, metabolic syndrome in shiftworkers, and altered food-timing patterns via disrupted circadian energy regulation