Research — GeneOps

rs4588 — GC Thr436Lys

Chromosome 4 Risk Allele T Category Vitamin D Metabolism Vitamin D, Bone Health, Cardiovascular, Diet, Mineral Metabolism

Alters vitamin D binding protein affinity, affecting total and bioavailable 25-hydroxyvitamin D levels

rs505151 — PCSK9 E670G

Chromosome 1 Risk Allele G Category Atherogenic Lipoproteins Cardiovascular, Cholesterol, LDL Cholesterol, Lipid Metabolism, Statins

Common missense variant in PCSK9 exon 12 where the rare G allele raises LDL cholesterol and increases coronary artery disease risk through enhanced LDLR degradation

rs505802 — SLC22A12

Chromosome 11 Risk Allele C Category Uric Acid & Kidney Function Gout, Uric Acid, Cardiovascular, Diet, Kidney Disease

Upstream regulatory variant in the URAT1 urate reabsorption transporter gene; the C allele increases SLC22A12 expression and renal urate reabsorption, elevating serum uric acid and gout risk, with the strongest effects in East Asian and African populations where the C allele predominates

rs6050 — FGA Thr312Ala

Chromosome 4 Risk Allele C Category Coagulation & Clotting Factors Thrombophilia, Thrombosis, Blood Clotting, Cardiovascular, Fibrinolysis, Heart Disease

Missense variant in the fibrinogen alpha chain (FGA) that substitutes alanine for threonine at position 312, altering the alphaC domain targeted by factor XIIIa cross-linking and producing lysis-resistant fibrin clots associated with elevated venous thromboembolism and pulmonary embolism risk

rs641738 — MBOAT7

Chromosome 19 Risk Allele T Category Liver Fat Liver Health, Fat Metabolism, Triglycerides, Inflammation, Diet

Regulatory variant that reduces MBOAT7 expression in the liver, impairing phosphatidylinositol remodeling and increasing risk of NAFLD, liver fibrosis, and hepatocellular carcinoma

rs113809142 — ABCA7 ABCA7 splice donor variant (c.4416+2T>G)

Chromosome 19 Risk Allele G Category Neurology & Cognition Alzheimer's, Neurodegeneration, Lipid Metabolism, Cognitive Decline, Brain Health, RNA Splicing

Rare splice donor variant in ABCA7 that disrupts mRNA processing, causing haploinsufficiency of a key amyloid-clearance lipid transporter; one of the strongest non-APOE genetic risk factors for late-onset Alzheimer's disease

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

rs11705701 — IGF2BP2 IGF2BP2 Insulin Signaling Variant

Chromosome 3 Risk Allele A Category Blood Sugar & Diabetes Insulin, Insulin Resistance, Diabetes, Obesity, Energy Metabolism, Fat Distribution

Upstream regulatory variant in IGF2BP2 that shifts mRNA isoform balance in adipose tissue and pancreatic islets, impairing insulin secretion and increasing insulin resistance risk, with moderate evidence for type 2 diabetes susceptibility

rs12141494 — CHI3L1 CHI3L1 Intron 6 Variant

Chromosome 1 Risk Allele A Category Allergy & Atopic Disease Asthma, Lung Health, Inflammation, Biomarkers, Immune Response

Intronic variant in CHI3L1 (intron 6) independently associated with asthma severity and airway YKL-40 expression; the A allele drives higher circulating YKL-40 levels and worse airflow obstruction through a mechanism that is independent of the well-known promoter variant rs4950928

rs12979860 — IFNL4

Chromosome 19 Risk Allele T Category Pharmacogenomics Innate Immunity, Inflammation, Infectious Disease, Interferon, Immune & Autoimmune

Intronic variant in IFNL4 — the strongest host genetic predictor of hepatitis C spontaneous clearance and treatment response, controlling interferon lambda antiviral immunity