Research — GeneOps

rs1050152 — SLC22A4 OCTN1 L503F

Chromosome 5 Risk Allele T Category Allergy & Atopic Disease IBD, Inflammation, Gut Health, Immune Function, Autoimmune, Gut Barrier

Missense variant in SLC22A4 encoding the organic cation/ergothioneine transporter OCTN1; the T allele (503F) increases ergothioneine transport efficiency and forms part of the IBD5 two-locus TC risk haplotype associated with Crohn's disease and other inflammatory conditions; strongly enriched in Europeans

rs10507391 — ALOX5AP SG13S114 intron variant

Chromosome 13 Risk Allele A Category Vascular Inflammation & Remodeling Atherosclerosis, Inflammation, Cardiovascular, Cerebrovascular, Heart Disease, Leukotriene

Intronic ALOX5AP variant in the HapA haplotype; the A allele is associated with elevated leukotriene production and increased leukotriene-mediated vascular inflammation, with population-specific associations with ischemic stroke and systemic sclerosis-related interstitial lung disease

rs10515522 — NR3C1

Chromosome 5 Risk Allele C Category Longevity & Aging Longevity, Aging, Stress Response, HPA Axis, Cortisol, Cholesterol

Intronic NR3C1 variant associated with longevity in Polish nonagenarians and centenarians; the C minor allele correlates with better survival rates and altered cholesterol metabolism

rs1051730 — CHRNA3 Tyr215Tyr

Chromosome 15 Risk Allele A Category Mood & Behavior Mental Health, Addiction, Smoking, Lung Cancer, Neurotransmitters, Lung Health

CHRNA3 synonymous variant in the nicotinic receptor gene cluster strongly associated with heavy smoking, nicotine dependence, lung cancer, and COPD, with independent effects in non-European populations

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