Research — GeneOps

rs13107325 — SLC39A8 A391T

Chromosome 4 Risk Allele T Category IBD & Mucosal Immunity Cardiovascular, Inflammation, Diet, Gut Microbiome, Metal Metabolism

Zinc and manganese transporter variant that reduces metal ion absorption, affecting gut barrier function and microbiome composition

rs13181 — ERCC2 Lys751Gln

Chromosome 19 Risk Allele G Category Longevity & Aging DNA Repair, Longevity, Aging, Cancer Risk, Oxidative Stress, Detoxification

Missense variant in the XPD helicase that reduces nucleotide excision repair capacity, increasing susceptibility to DNA damage from UV, tobacco smoke, and environmental carcinogens

rs137852641 — NOTCH3

Chromosome 19 Risk Allele A Category Vascular Inflammation & Remodeling Cardiovascular, Neurodegeneration, Dementia, Heart Disease, Genetic Counseling, Cognitive Decline

Pathogenic NOTCH3 missense variant p.Arg332Cys that alters the cysteine count in EGF-like repeat 6, causing CADASIL — the most common inherited cause of ischemic stroke and vascular dementia

rs137852690 — STAR A218V

Chromosome 8 Risk Allele A Category Reproductive Hormones Steroid Hormones, Steroid Metabolism, Carrier Status, Congenital, Fertility, Reproductive Health

STAR missense variant abolishing steroidogenic activity; homozygous carriers develop lipoid congenital adrenal hyperplasia with absent cortisol, aldosterone, and sex hormone production

rs137852769 — HADHA p.Glu510Gln

Chromosome 2 Risk Allele G Category Metabolic Enzymes & Rare Disorders Fat Metabolism, Mitochondria, Metabolic, Carrier Status, Cardiovascular, Energy Metabolism

Most common LCHAD deficiency variant; homozygosity causes severe mitochondrial long-chain fatty acid oxidation failure with cardiomyopathy, rhabdomyolysis, and neuropathy; carrier mothers of affected fetuses risk maternal HELLP syndrome and acute fatty liver of pregnancy

rs1420318 — FTO

Chromosome 16 Risk Allele A Category Fitness & Body Fat Metabolism, Obesity, Bone Health, Alcohol, Metabolic

FTO intron 8 variant associated with nominal spine bone mineral density effects and alcohol dependence susceptibility; low LD with the rs9939609 obesity cluster

rs142885915 — NPSR1 NPSR1 Endometriosis Risk Variant

Chromosome 7 Risk Allele D Category Endometriosis & Uterine Health Endometriosis, Fertility, Women's Health, Chronic Pain, Neuroinflammation, Pain Sensitivity, Inflammation

An intronic insertion/deletion variant in the neuropeptide S receptor 1 gene associated with stage III/IV endometriosis; the deletion allele tags regulatory variation that amplifies NPSR1-driven neuroinflammatory signalling in the peritoneal environment, implicating a nonhormonal pain and inflammation pathway in advanced disease.

rs1501299 — ADIPOQ +276G>T

Chromosome 3 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Cardiovascular, Diabetes, Insulin, Fat Metabolism, Diet, Inflammation

Intronic variant in the adiponectin gene that influences circulating adiponectin levels, insulin sensitivity, and metabolic response to diet; the T allele is associated with lower adiponectin and higher insulin resistance

rs16147 — NPY C-399T

Chromosome 7 Risk Allele C Category Mood & Behavior Stress Response, Appetite, Obesity, Pain Sensitivity, Cardiovascular, Neurotransmitters

Promoter variant in neuropeptide Y that modulates NPY expression under stress, affecting stress resilience, anxiety vulnerability, appetite regulation, and migraine susceptibility

rs17166496 — FSTL4 FSTL4 rs17166496

Chromosome 5 Risk Allele C Category Appetite & Obesity Type 1 Diabetes, Autoimmune, Immune Function, Diabetes, Inflammation

Intronic variant in FSTL4 (Follistatin-Like 4) on chromosome 5q31; heterozygous GC carriers show a ~23% reduction in type 1 diabetes risk in the WTCCC genome-wide association study, though the 5q31 causal gene remains disputed due to extensive regional linkage disequilibrium