Research — GeneOps

rs1053049 — PPARD 3'UTR variant

Chromosome 6 Risk Allele C Category Fitness & Body Endurance, Exercise, Fat Metabolism, Cardiovascular, Muscle, Insulin

3'UTR variant in PPARD that acts as the third tag in the elite athlete haplotype (rs2267668/rs2016520/rs1053049); TC carriers show enhanced skeletal muscle glucose uptake and insulin sensitivity; the A/C/C haplotype containing this C allele is dramatically underrepresented in elite athletes

rs1063537 — ADIPOQ

Chromosome 3 Risk Allele C Category Fat Storage & Energy Adipogenesis, Insulin Resistance, Metabolic Syndrome, Cardiovascular, Diabetes, Kidney

3'UTR variant in ADIPOQ that modulates adiponectin mRNA stability; the common C allele is associated with lower circulating adiponectin and higher type 2 diabetes and cardiovascular risk, while the minor T allele is protective for metabolic outcomes

rs10738445 — BNC2 BNC2 AIS susceptibility variant

Chromosome 9 Risk Allele C Category Innate Immunity & Infection Defense Bone & Joint, Connective Tissue, Innate Immunity, Inflammation, Embryo Development

Intronic enhancer variant in basonuclin-2 that increases YY1 binding and BNC2 expression, elevating susceptibility to adolescent idiopathic scoliosis and predicting brace treatment failure

rs10766383 — NUCB2

Chromosome 11 Risk Allele T Category Hormones & Sleep Hormones, Sleep, Appetite, Obesity, Diabetes, Cancer Risk

Intronic NUCB2 variant associated with type 2 diabetes risk in females and oral cancer progression in older males — the T allele modestly reduces nesfatin-1 signaling efficiency across metabolic and oncological contexts

rs10767664 — BDNF

Chromosome 11 Risk Allele A Category Appetite & Obesity Obesity, Satiety, Appetite, Fat Metabolism, Brain Health, Diabetes

Obesity GWAS locus in a conserved BDNF enhancer - reduces hypothalamic BDNF expression and satiety signaling, increasing caloric intake and BMI

rs10800309 — FCGR2A FCGR2A intronic variant

Chromosome 1 Risk Allele G Category B-Cell Immunity & Antibody-Mediated Disease Autoimmune, Inflammation, Lupus, Immune Response, Macrophage

Intronic upstream variant in FCGR2A that modulates surface expression of the FcγRIIa immune receptor on myeloid cells, altering IgG immune complex clearance efficiency and autoimmune susceptibility

rs10835638 — FSHB c.-211G>T

Chromosome 11 Risk Allele T Category Fertility & Ovarian Function Fertility, Gonadotropins, Male Fertility, Ovarian Reserve, IVF, Reproductive Health

Promoter variant reducing FSH beta-subunit transcription by ~50%, lowering serum FSH levels and impairing folliculogenesis in females and spermatogenesis in males

rs10841496 — PDE3A

Chromosome 12 Risk Allele A Category Blood Pressure & Hypertension Blood Pressure, Cardiovascular, Hypertension, Nitric Oxide, Heart Disease

5' UTR variant in phosphodiesterase 3A that may alter PDE3A expression, affecting cAMP metabolism in vascular smooth muscle and cardiac tissue

rs10859871 — VEZT

Chromosome 12 Risk Allele C Category Endometriosis & Uterine Health Endometriosis, Fertility, Reproductive Health, Connective Tissue, Women's Health, Inflammation

Intronic variant near the VEZT (vezatin) gene at 12q22 associated with increased endometriosis susceptibility across multiple GWAS meta-analyses; the C allele acts as a cis-eQTL increasing VEZT expression in blood and endometrial tissue, implicating disrupted adherens junction integrity in ectopic endometrial implantation

rs10954213 — IRF5 3'UTR polyadenylation

Chromosome 7 Risk Allele A Category Interferon Signaling & Systemic Autoimmune Immune & Autoimmune, Inflammation, Interferon, Lupus, Connective Tissue, Innate Immunity

3'UTR variant creating a functional polyadenylation site; A allele produces a shorter, more stable IRF5 mRNA isoform driving higher IRF5 protein levels and autoimmune disease risk