Research — GeneOps

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

rs7137828 — ATXN2

Chromosome 12 Risk Allele T Category Longevity & Aging Longevity, Aging, Glaucoma, Eye Health, Neurodegeneration, mTOR Pathway

Intronic ATXN2 variant associated with primary open-angle glaucoma risk; T allele elevates odds of glaucoma by ~17% per copy through reduced retinal ganglion cell function

rs2227284 — IL4 IL4 T+2979G

Chromosome 5 Risk Allele T Category Allergy & Atopic Disease Asthma, Inflammation, Immune & Autoimmune, Autoimmune, Immune Function, Infection Risk

Intronic regulatory variant in IL-4, the master Th2 cytokine; the T allele impairs IL-4 transcriptional regulation, elevating Th2-skewed inflammatory tone and increasing susceptibility to asthma, allergic rhinitis, and severe infections, while the G allele is associated with reduced atopic disease risk

rs2736990 — SNCA

Chromosome 4 Risk Allele G Category Neurology & Cognition Neurological Risk, Parkinson's, Neuroprotection, Brain Health, Oxidative Stress, Cognitive Decline

Intronic SNCA variant (intron 4) associated with Parkinson's disease risk and cognitive impairment; the G allele upregulates alpha-synuclein protein levels and is independent of rs356219

rs2838956 — SLC19A1 RFC1 intronic variant

Chromosome 21 Risk Allele G Category Methylation & Detox Methylation, Folate, B Vitamins, Homocysteine, Drug Metabolism

Intronic SLC19A1 variant that tags a haplotype affecting reduced folate carrier expression or splicing, influencing methotrexate transport efficiency and folate uptake across cell membranes