Research — GeneOps

rs13405728 Intronic variant in the LH/choriogonadotropin receptor gene associated with PCOS susceptibility and elevated androgen levels, predominantly in Asian and East African populations

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

The luteinizing hormone/choriogonadotropin receptor (LHCGR) is the primary gateway through which the pituitary communicates its ovulatory signal to the ovary. When the pituitary releases a surge of LH, it binds LHCGR on theca cells and mature granulosa cells, triggering steroidogenesis, follicle rupture, and corpus...

rs1387923 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

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

NTRK2 encodes TrkB (tropomyosin receptor kinase B), the primary receptor for brain-derived neurotrophic factor (BDNF)(https://pubmed.ncbi.nlm.nih.gov/21215389/). When BDNF binds TrkB, it triggers intracellular signaling cascades that determine whether neurons form new connections, survive cellular stress, or respond...

rs146906133 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

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

Urinary tract infections (UTIs) are among the most common bacterial infections in humans, affecting roughly 50% of women at least once in their lifetime and frequently recurring in a subset genetically predisposed to mucosal colonization by uropathogenic E. coli. While immune signaling genes like TLR4 have long been...

rs147647315 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

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

Your kidneys perform a quiet daily miracle: filtering 7–8 grams of uric acid from your blood, then reabsorbing roughly 90% of it back before it can reach the urine. The protein that does most of this recapture is URAT1 (Urate Transporter 1)(https://pubmed.ncbi.nlm.nih.gov/31841133/). The R90H variant (rs147647315)...

rs1535 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

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

The FADS2 gene on chromosome 11 encodes delta-6 desaturase(), the rate-limiting enzyme that opens the door to all long-chain polyunsaturated fatty acid synthesis from dietary plant precursors. rs1535 is an intronic FADS2 variant studied in large multi-generational cohorts, and it carries a specific distinction among...

rs16891982 Major determinant of light skin pigmentation in Europeans; lighter-skinned individuals have reduced melanin photoprotection and elevated melanoma risk

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

SLC45A2 encodes a melanosomal membrane transporter protein previously known as MATP(https://pubmed.ncbi.nlm.nih.gov/18563784/) that regulates melanin synthesis by controlling melanosomal pH through proton transport. The L374F variant (rs16891982) represents one of the most important genetic determinants of...

rs1799998 Promoter variant in aldosterone synthase increasing CYP11B2 transcription, associated with elevated aldosterone, higher blood pressure, and sodium-sensitive left ventricular hypertrophy

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

The CYP11B2 gene(https://omim.org/entry/124080). Aldosterone is the body's primary mineralocorticoid hormone — it controls sodium retention, potassium excretion, and blood pressure by acting on the kidneys' collecting ducts. The rs1799998 variant (-344CT) sits in the promoter region of CYP11B2 at a binding site for...

rs1800380 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

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

Von Willebrand factor(https://pubmed.ncbi.nlm.nih.gov/29637212/) is arguably the single most important quantitative determinant of bleeding and thrombosis risk below the level of frank coagulation factor deficiency. Normal-range plasma VWF antigen levels span roughly 50–200 IU/dL — a four-fold window — and that...

rs1800562 Primary variant causing hereditary hemochromatosis type 1, disrupting iron regulation and hepcidin signaling

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

The HFE gene encodes the hereditary hemochromatosis protein(), a key regulator of iron homeostasis. A single G-to-A change at nucleotide 845 replaces cysteine with tyrosine at position 282 of the protein, destroying a critical disulfide bond in the alpha-3 domain(). This variant — universally known as C282Y — is the...

rs1800629 Promoter variant increasing TNF-alpha production approximately 2-fold, associated with autoimmune diseases and anti-TNF drug response

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

The TNF gene encodes tumor necrosis factor-alpha(https://www.ncbi.nlm.nih.gov/gene/7124), produced by macrophages, T cells, and other immune cells. This -308 GA variant sits in the promoter region(https://pubmed.ncbi.nlm.nih.gov/9293772/) of the gene on chromosome 6p21.3, within the major histocompatibility complex....