Research — GeneOps

rs4855559 — MYH15

Chromosome 3 Risk Allele T Category Cardiomyopathy & Structural Heart Cardiovascular, Endothelial Health, Heart Disease, Nitric Oxide, Anxiety

Intronic variant in the myosin heavy chain 15 gene associated with impaired coronary microvascular function and abnormal coronary flow reserve in men (OR 2.27)

rs5068 — NPPA

Chromosome 1 Risk Allele G Category Blood Pressure & Hypertension Cardiovascular, Blood Pressure, Hypertension, Metabolic Syndrome, Insulin, Nitric Oxide

3'UTR variant that disrupts miR-425 binding, increasing atrial natriuretic peptide levels and conferring cardioprotection against hypertension and metabolic syndrome

rs519664 — TTC39B TTC39B rs519664

Chromosome 9 Risk Allele T Category Endometriosis & Uterine Health Endometriosis, Fertility, Women's Health, Inflammation, Lipid Metabolism, HDL Cholesterol

Intronic variant in TTC39B (9p22) that increases endometriosis susceptibility; the T allele carries an OR of 1.29 for endometriosis, with a stronger effect on stage III/IV disease (OR 1.35). TTC39B is a regulator of LXR protein stability that controls HDL cholesterol metabolism.

rs610604 — TNFAIP3

Chromosome 6 Risk Allele G Category Psoriasis & Spondyloarthropathy Autoimmune, Inflammation, Psoriasis, Anti-TNF Biologics, Immune & Gut, Skin

Intronic variant in TNFAIP3 whose G allele is the primary psoriasis susceptibility signal at 6q23.3, tagging a regulatory haplotype distinct from the rheumatoid arthritis and lupus signals at the same locus, and predicting better response to TNF inhibitor therapy

rs61750630 — VWF C2362F

Chromosome 12 Risk Allele A Category Von Willebrand & Anticoagulant Proteins Blood Clotting, Cardiovascular, Carrier Status, Thrombosis, Genetic Counseling, Thrombophilia

Pathogenic missense variant in von Willebrand factor causing intracellular retention of the mutant protein; homozygosity causes severe type 3 von Willebrand disease, heterozygous carriers typically have reduced VWF levels and mild bleeding symptoms

rs696217 — GHRL Leu72Met

Chromosome 3 Risk Allele T Category Appetite & Obesity Obesity, Appetite, Metabolic Syndrome, Insulin, Fat Metabolism, Satiety, Diabetes

Missense variant in the ghrelin prepropeptide that impairs postprandial ghrelin suppression, increasing appetite, sugar intake, and metabolic syndrome susceptibility

rs72552272 — SLC7A7 L334R

Chromosome 14 Risk Allele C Category Metabolic Enzymes & Rare Disorders Urea Cycle, Metabolic, Kidney, Lung Health, Bone Health, Carrier Status

Pathogenic missense in the y+LAT1 cationic amino acid transporter causing lysinuric protein intolerance, a recessive disorder of dibasic amino acid transport with hyperammonemia, protein aversion, and multi-organ complications.

rs72553883 — TNFRSF13B A181E

Chromosome 17 Risk Allele T Category B-Cell Immunity & Antibody-Mediated Disease B-Cell Signaling, Autoimmune, Immune Function, Infection Risk, Immune Response, Carrier Status, Innate Immunity, Immune System

Transmembrane domain missense variant in TACI that abolishes NF-κB signaling, impairing B-cell class switching and antibody production; associated with common variable immunodeficiency and selective IgA deficiency

rs7594951 — SRD5A2 SRD5A2 intron 4 regulatory variant

Chromosome 2 Risk Allele T Category Reproductive Hormones Testosterone, Steroid Metabolism, Hair Loss, Prostate, Reproductive Health, Drug Metabolism

Deep intronic variant in the testosterone-to-DHT converting enzyme; the minor T allele is associated with higher serum DHT levels, with implications for androgenetic alopecia severity, prostate growth, and response to 5-alpha-reductase inhibitors

rs7759938 — LIN28B

Chromosome 6 Risk Allele T Category Fertility & Ovarian Function Puberty Timing, Fertility, Reproductive Health, Hormones, Uterine Fibroids

Regulatory variant near LIN28B associated with puberty timing — the T allele is linked to earlier menarche in females and earlier puberty in males, with implications for reproductive window length and age-at-onset of fertility