Research — GeneOps

rs6949152 — NRF1

Chromosome 7 Risk Allele G Category Longevity & Aging Mitochondria, Longevity, Aging, Aerobic Capacity, Endurance, Fitness

Intronic variant in the master mitochondrial biogenesis transcription factor — the G allele is associated with lower slow-twitch muscle fiber proportion and reduced aerobic training adaptability

rs897453 — PEMT

Chromosome 17 Risk Allele T Category Vitamins & Nutrient Absorption Methylation, Liver Health, Women's Health, B Vitamins, Fertility

PEMT missense variant (Val95Ile) reducing endogenous phosphatidylcholine synthesis and elevating dietary choline requirements, with strongest impact in premenopausal women and during pregnancy

rs2158177 — TH2LCRR RAD50/IL13 Region Variant

Chromosome 5 Risk Allele G Category Allergy & Atopic Disease Asthma, Inflammation, Autoimmune, Skin Health, Lung Health, Immune Response

Intronic variant in TH2LCRR, a long noncoding RNA residing in the 5q31.1 RAD50/IL13 atopy susceptibility locus; the G allele is associated with elevated blood eosinophil counts, atopic dermatitis susceptibility in Chinese Han populations (OR 1.15), and asthma risk through amplified Th2 locus control region activity

rs234706 — CBS C699T

Chromosome 21 Risk Allele A Category Methylation & Detox Methylation, Cardiovascular, Folate, B Vitamins, Homocysteine, Detoxification

Common synonymous variant in the CBS gene associated with reduced cardiovascular disease risk and enhanced response to folate supplementation

rs2653349 — HCRTR2 Ile308Val

Chromosome 6 Risk Allele A Category Neurology & Cognition Sleep, Arousal, Chronotype, Pharmacogenomics, Neurotransmitters, Brain Health

Missense variant at position 308 of the orexin receptor 2 protein; the minor Ile308 allele (A) reduces receptor activity, increasing daytime napping tendency and evening chronotype, while placing the variant directly at a drug target for orexin antagonist sleep medications

rs316019 — SLC22A2 Ala270Ser

Chromosome 6 Risk Allele A Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Diabetes, Metformin, Kidney

Reduces OCT2 organic cation transporter function in the kidney, lowering metformin renal clearance and conferring partial protection against cisplatin ototoxicity and nephrotoxicity

rs3787348 — PTPN1 PTPN1 intronic variant

Chromosome 20 Risk Allele T Category Blood Sugar & Diabetes Insulin Resistance, Leptin, Obesity, Diabetes, Metabolic Health, Fat Distribution

Intronic PTPN1 tag SNP within the 100-kb insulin-resistance haplotype block; carriers of the T allele show reduced weight loss response to lifestyle intervention and blunted leptin reduction, consistent with elevated PTP1B activity dampening insulin and leptin signaling

rs4307059 — CDH9/CDH10

Chromosome 5 Risk Allele C Category Hormones & Sleep Sleep, Neurological Risk, Cognition, Sensory Processing, Brain Health, Mental Health

Intergenic variant at 5p14.1 between neuronal cell-adhesion genes CDH9 and CDH10, associated with autism spectrum disorder risk and related social-communication and sleep phenotypes

rs4783244 — CDH13

Chromosome 16 Risk Allele T Category Triglycerides & Fatty Acids Fat Metabolism, Cardiovascular, Insulin Resistance, Adipogenesis, Metabolic Syndrome

Intronic CDH13 variant altering T-cadherin expression; T allele carriers have lower circulating adiponectin but improved adiponectin signalling efficiency and better cardiometabolic outcomes

rs5181 — LRP8 Trp466Cys

Chromosome 1 Risk Allele G Category Fat Storage & Energy Lipid Metabolism, Fat Metabolism, Cardiovascular, Cholesterol, Atherosclerosis, Obesity

Rare missense variant in the ApoE receptor 2 (LRP8) ligand-binding domain, disrupting a conserved tryptophan involved in apolipoprotein E-mediated lipid uptake and cholesterol homeostasis in adipocytes and macrophages