Research — GeneOps

rs202676 — FOLH1 T484A

Chromosome 11 Risk Allele G Category Methylation & Detox Methylation, Folate, B Vitamins, Homocysteine, Cognition

Reduces intestinal folate hydrolase activity, impairing absorption of dietary polyglutamyl folates and lowering circulating folate available for methylation

rs2230912 — P2RX7 Gln460Arg

Chromosome 12 Risk Allele G Category Neurology & Cognition Neuroinflammation, Mental Health, Mood, Brain Health, Sleep, Inflammation

Missense variant in the C-terminal domain of the P2X7 receptor that disrupts normal receptor dimerisation when coexpressed with the wild-type allele, with the G (Arg460) allele associated with major depressive disorder in a large meta-analysis and with higher multiple sclerosis severity scores; the A (Gln460, low-activity) allele is independently linked to rapid cycling in bipolar disorder

rs2295490 — TRIB3 Q84R

Chromosome 20 Risk Allele G Category Blood Sugar & Diabetes Insulin Resistance, Diabetes, Insulin, Metabolic, Cardiovascular, Energy Metabolism

TRIB3 pseudokinase missense variant that increases Akt inhibition, impairing insulin signaling across liver, muscle, and pancreatic beta cells, with associated risk for insulin resistance and type 2 diabetes

rs2740574 — CYP3A4 *1B -392A>G

Chromosome 7 Risk Allele C Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Cancer Risk, Ancestry

Promoter variant affecting CYP3A4 expression, most common in African populations

rs3212018 — CD36

Chromosome 7 Risk Allele D Category Triglycerides & Fatty Acids Fat Metabolism, Lipid Metabolism, Diet, Obesity, Appetite

A 16-bp deletion in the 3' untranslated region of CD36 that may reduce mRNA stability and lower CD36 protein expression at taste receptor cells and intestinal enterocytes, affecting dietary fat perception and fatty acid uptake

rs34536443 — TYK2 TYK2 p.Pro1104Ala

Chromosome 19 Risk Allele G Category Hormones & Sleep Autoimmune, Interferon, Inflammation, Thyroid, Multiple Sclerosis, Rheumatoid Arthritis

A missense variant in TYK2 that partially impairs JAK-family signaling downstream of IL-12, IL-23, and type I interferons, conferring broad protection against multiple autoimmune diseases including rheumatoid arthritis, lupus, multiple sclerosis, psoriasis, type 1 diabetes, and hypothyroidism

rs3745012 — LPIN2 LPIN2 3'UTR variant

Chromosome 18 Risk Allele G Category Fat Storage & Energy Fat Distribution, Insulin Resistance, Diabetes, Obesity, Metabolic, Adipogenesis

3' UTR regulatory variant in LPIN2 (lipin 2) that alters fat distribution and insulin sensitivity, with risk for type 2 diabetes that is amplified by obesity

rs4975605 — TERT

Chromosome 5 Risk Allele A Category Longevity & Aging Telomere Biology, Cancer Risk, Aging, Longevity, Cancer Screening, Genomic Stability

Intronic TERT variant influencing telomere maintenance, associated with testicular and ovarian cancer risk, reduced platinum chemotherapy benefit in lung cancer, and a protective effect against paranoid schizophrenia

rs63749869 — RYR1 R4861H (Arg4861His)

Chromosome 19 Risk Allele A Category Fitness & Body Anesthesia, Muscle, Pharmacogenomics, Drug Response, Calcium, Fitness

RYR1 missense variant causing malignant hyperthermia susceptibility and central core disease; carriers face life-threatening reactions to volatile anesthetics and succinylcholine

rs6596471 — SLC23A1 SLC23A1 variant

Chromosome 5 Risk Allele G Category Vitamins & Nutrient Absorption Vitamin C, Vitamins, Micronutrients, Antioxidants, Diet, Renal Function

Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT1) representing an independent haplotype signal at the SLC23A1 locus — the G allele is associated with lower plasma vitamin C concentrations via reduced transporter output distinct from the Val264Met missense variant (rs33972313)