Research — GeneOps

rs3745012 — LPIN2 LPIN2 3'UTR variant

Chromosome 18 Risk Allele G Category Fat Storage & Energy Fat Distribution, Insulin Resistance, Diabetes, Obesity, Metabolic, Adipogenesis

3' UTR regulatory variant in LPIN2 (lipin 2) that alters fat distribution and insulin sensitivity, with risk for type 2 diabetes that is amplified by obesity

rs4975605 — TERT

Chromosome 5 Risk Allele A Category Longevity & Aging Telomere Biology, Cancer Risk, Aging, Longevity, Cancer Screening, Genomic Stability

Intronic TERT variant influencing telomere maintenance, associated with testicular and ovarian cancer risk, reduced platinum chemotherapy benefit in lung cancer, and a protective effect against paranoid schizophrenia

rs63749869 — RYR1 R4861H (Arg4861His)

Chromosome 19 Risk Allele A Category Fitness & Body Anesthesia, Muscle, Pharmacogenomics, Drug Response, Calcium, Fitness

RYR1 missense variant causing malignant hyperthermia susceptibility and central core disease; carriers face life-threatening reactions to volatile anesthetics and succinylcholine

rs6596471 — SLC23A1 SLC23A1 variant

Chromosome 5 Risk Allele G Category Vitamins & Nutrient Absorption Vitamin C, Vitamins, Micronutrients, Antioxidants, Diet, Renal Function

Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT1) representing an independent haplotype signal at the SLC23A1 locus — the G allele is associated with lower plasma vitamin C concentrations via reduced transporter output distinct from the Val264Met missense variant (rs33972313)

rs73015965 — PLG Lys38Glu (K38E)

Chromosome 6 Risk Allele G Category Innate Immunity & Infection Defense Innate Immunity, Infection Risk, Fibrinolysis, Blood Clotting, Hearing Loss, Carrier Status, Thrombophilia

Missense variant in plasminogen that reduces fibrinolytic activity and impairs fibrin clearance from mucosal surfaces, causing ligneous (woody) pseudomembrane formation and dramatically increasing risk for chronic otitis media and other mucous membrane inflammation

rs7412 — APOE E2 determinant

Chromosome 19 Category Cholesterol & Lipoproteins Cholesterol, Cardiovascular, Fat Metabolism, Alzheimer's

APOE E2 variant - generally protective for cardiovascular health

rs74315379 — TNNT2 R141W / R151W

Chromosome 1 Risk Allele A Category Cardiomyopathy & Structural Heart Cardiovascular, Heart Disease, Genetic Counseling, Arrhythmia, Fibrosis

Rare pathogenic missense variant in cardiac troponin T causing calcium desensitization and autosomal dominant dilated cardiomyopathy and left ventricular noncompaction

rs767603 — LOC105378189

Chromosome 14 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Cerebrovascular, Cardiovascular, Endothelial Health, Inflammation, Angiogenesis, Genetic Counseling

Regulatory variant near LOC105378189 non-coding RNA locus on chromosome 14q23; the T allele is associated with increased susceptibility to intracranial berry aneurysm through putative regulatory effects on vascular wall integrity genes

rs9298506 — SOX17

Chromosome 8 Risk Allele A Category Vascular Inflammation & Remodeling Cerebrovascular, Cardiovascular, Endothelial Health, Angiogenesis, Inflammation, Genetic Counseling

Regulatory tag variant near SOX17 at chromosome 8q11.23 associated with intracranial aneurysm susceptibility in European and East Asian populations; A allele confers elevated risk through putative effects on SOX17 endothelial transcription factor expression

rs9556979 — STK24 HPA Axis Regulation

Chromosome 13 Risk Allele G Category Mood & Behavior Anxiety, HPA Axis, Stress Response, Neuroplasticity, Mood, Cortisol

Regulatory variant near STK24 (MST3), a kinase essential for hippocampal neurogenesis and neuronal migration — the G allele is associated with disrupted HPA axis stress reactivity and anxiety-like phenotypes