Research — GeneOps

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

rs987237 — TFAP2B

Chromosome 6 Risk Allele G Category Appetite & Obesity Fat Metabolism, Diet, Obesity, Cardiovascular

Adipocyte transcription factor variant influencing central fat distribution and modifying weight-loss response to dietary fat

rs1898671 — TSLP TSLP Intronic Variant (Atopic Dermatitis)

Chromosome 5 Risk Allele C Category Allergy & Atopic Disease Autoimmune, Inflammation, Asthma, Skin Health, Immune Function

Intronic TSLP variant that modulates thymic stromal lymphopoietin activity, with T allele carriers showing milder, less persistent atopic dermatitis and reduced need for immunosuppressive treatment

rs202720 — FOLH1

Chromosome 11 Risk Allele C Category Methylation & Detox Methylation & Detox, Folate, B Vitamins, Homocysteine, Methylation

Intronic variant in the intestinal folate-cleaving enzyme FOLH1 (GCPII); the C allele may reduce dietary folate bioavailability by altering GCPII expression or splicing

rs2274319 — MEF2D

Chromosome 1 Risk Allele C Category Neurology & Cognition Migraine, Neuroplasticity, Brain Health, Neurotransmitters, Pain Sensitivity, Cognition

Intronic variant in MEF2D encoding a key neuronal transcription factor that regulates excitatory synapse development and neuronal survival; the C allele is associated with increased migraine susceptibility in the largest migraine GWAS to date (OR=1.075, P=3.0E-41, 102,084 cases) and is thought to subtly alter MEF2D expression in cortical and trigeminal neurons, modulating synaptic excitability thresholds