Research — GeneOps

rs13405728 — LHCGR

Chromosome 2 Risk Allele A Category Fertility & Ovarian Function PCOS, Fertility, Reproductive Health, Hormones, Gonadotropins, IVF

Intronic variant in the LH/choriogonadotropin receptor gene associated with PCOS susceptibility and elevated androgen levels, predominantly in Asian and East African populations

rs1387923 — NTRK2 NTRK2/TrkB 3'UTR variant

Chromosome 9 Risk Allele G Category Mood & Behavior Mental Health, Depression, Brain Health, Neuroplasticity, Antidepressants, Neurotransmitters

3' UTR variant in the TrkB receptor gene affecting NTRK2 expression; associated with treatment-resistant depression susceptibility and lithium/mood-stabilizer response through BDNF signaling pathway effects

rs146906133 — FRMD5 FRMD5 UTI susceptibility variant

Chromosome 15 Risk Allele T Category Innate Immunity & Infection Defense Innate Immunity, Infection Risk, Infectious Disease, Women's Health, Bacterial Clearance, Immune Defense

Intronic variant in FRMD5 — a cell-adhesion scaffolding gene — where the rare C allele is associated with reduced recurrent urinary tract infection susceptibility, implicating uroepithelial barrier integrity in innate mucosal defense

rs147647315 — SLC22A12 URAT1 R90H

Chromosome 11 Risk Allele A Category Uric Acid & Kidney Function Uric Acid, Kidney Function, Gout, Ancestry-Specific, Renal Function, Exercise

Missense variant in URAT1 reducing urate reabsorption in the kidney, causing lower serum uric acid and strong protection against gout; enriched in African ancestry populations and documented as the dominant SLC22A12 signal for serum uric acid in that group

rs1535 — FADS2

Chromosome 11 Risk Allele G Category Triglycerides & Fatty Acids Omega-3, Fat Metabolism, Cardiovascular, Diet, Brain Health, Inflammation

Intronic FADS2 variant with stronger independent associations than rs174575 for PUFA substrate accumulation; G allele carriers have elevated linoleic and alpha-linolenic acid with reduced arachidonic acid, EPA, and DHA, and show preferential benefit from high-dose omega-3 supplementation after cardiac events

rs16891982 — SLC45A2 L374F

Chromosome 5 Risk Allele G Category Skin & Eyes Pigmentation, Melanoma Risk, Sun Sensitivity, Skin Cancer, UV Protection

Major determinant of light skin pigmentation in Europeans; lighter-skinned individuals have reduced melanin photoprotection and elevated melanoma risk

rs1799998 — CYP11B2 -344C>T

Chromosome 8 Risk Allele A Category Blood Pressure & Hypertension Cardiovascular, Blood Pressure, Salt Sensitivity, Hypertension, Steroid Metabolism

Promoter variant in aldosterone synthase increasing CYP11B2 transcription, associated with elevated aldosterone, higher blood pressure, and sodium-sensitive left ventricular hypertrophy

rs1800380 — VWF Arg960= (synonymous)

Chromosome 12 Risk Allele T Category Von Willebrand & Anticoagulant Proteins Blood Clotting, Cardiovascular, Thrombosis, Thrombophilia, Heart Disease

Common synonymous variant in the VWF D2/D' domain region; the T allele is part of a haplotype block strongly associated with elevated plasma VWF antigen levels, increasing platelet adhesion efficiency and thrombotic risk, while the C allele is associated with lower circulating VWF

rs1800562 — HFE C282Y

Chromosome 6 Risk Allele A Category Iron & Mineral Transport Iron, Hemochromatosis, Vitamins, Diet, Cardiovascular

Primary variant causing hereditary hemochromatosis type 1, disrupting iron regulation and hepcidin signaling

rs1800629 — TNF -308 G>A

Chromosome 6 Risk Allele A Category TNF, NF-kB & Inflammatory Cytokines Immune & Autoimmune, Inflammation, Drug Metabolism, Cardiovascular, Anti-TNF Biologics, Pain Sensitivity, Chronic Pain

Promoter variant increasing TNF-alpha production approximately 2-fold, associated with autoimmune diseases and anti-TNF drug response