Research — GeneOps

rs3733890 — BHMT R239Q

Chromosome 5 Risk Allele A Category Methylation & Detox Methylation, Homocysteine, B Vitamins, Cardiovascular, Diet

Missense variant in betaine-homocysteine methyltransferase that reduces enzyme throughput and influences homocysteine, betaine, and choline metabolite levels

rs3745274 — CYP2B6 516G>T

Chromosome 19 Risk Allele T Category Pharmacogenomics Drug Metabolism, Antidepressants, Pain Medication, Immunosuppressants

Decreased-function variant affecting metabolism of efavirenz, methadone, bupropion, and cyclophosphamide

rs4753426 — MTNR1B

Chromosome 11 Risk Allele C Category Hormones & Sleep Sleep, Melatonin, Circadian, Chronotype, Diabetes, Insulin

Promoter variant in the melatonin receptor 1B gene that alters MTNR1B expression, affecting circadian rhythm, morningness chronotype, and fasting glucose through impaired insulin secretion

rs4807015 — PTPRS PTPRS T2D risk variant

Chromosome 19 Risk Allele C Category Blood Sugar & Diabetes Diabetes, Insulin Resistance, Insulin, Pancreatic Beta Cell, Metabolic Syndrome, Metabolic Health

Intronic PTPRS variant that tags elevated type 2 diabetes risk in both sexes through increased receptor protein tyrosine phosphatase sigma activity, which dephosphorylates insulin-signalling substrates and attenuates both pancreatic insulin secretion and peripheral insulin sensitivity

rs57137919 — ABCG1

Chromosome 21 Risk Allele G Category Triglycerides & Fatty Acids Triglycerides, Cholesterol, Atherosclerosis, Cardiovascular, Macrophage, HDL Cholesterol

ABCG1 promoter variant that reduces transporter expression, impairing macrophage cholesterol efflux and increasing macrophage apoptosis — yet paradoxically associated with higher HDL-C, lower LDL-C, and reduced coronary artery disease risk in population studies

rs6981587 — ANK1 ANK1 small-ankyrin T2D locus variant

Chromosome 8 Risk Allele T Category Fat Storage & Energy Fat Metabolism, Insulin Resistance, Metabolic, Energy Metabolism, Diabetes, Fat Distribution

Intronic ANK1 variant at the NKX6-3/ANK1 type 2 diabetes locus; the T allele alters ANK1 expression in adipose tissue and skeletal muscle, impairing insulin-stimulated glucose uptake and insulin processing through a non-islet mechanism

rs9470080 — FKBP5

Chromosome 6 Risk Allele T Category Longevity & Aging Longevity, Aging, HPA Axis, Stress Response, Inflammation, Cardiovascular

Intronic FKBP5 variant in the stress-aging haplotype block — T allele carriers show impaired HPA axis negative feedback, accelerated epigenetic aging, and elevated NF-κB-driven inflammation

rs2243290 — IL4 IL4 Intron 3 Protective Haplotype Variant

Chromosome 5 Risk Allele A Category Allergy & Atopic Disease Asthma, Immune Response, Immune System, Inflammation, Autoimmune, Immune & Autoimmune

Intronic IL4 variant that forms part of the protective C-G-C haplotype (rs2243250–rs2227284–rs2243290); the C allele is associated with reduced asthma susceptibility, while the A allele tracks with the high-Th2 haplotype and increased atopic disease risk

rs3194051 — IL7R I356V

Chromosome 5 Risk Allele G Category Neurology & Cognition Immune & Gut, Multiple Sclerosis, T-Cell Regulation, Autoimmune, Immune & Autoimmune

Exon 8 missense variant in the IL-7 receptor alpha chain (Ile356Val) associated with modestly increased multiple sclerosis susceptibility under a recessive model; unlike rs6897932, no functional splicing or expression mechanism has been established

rs3758581 — CYP2C19 Ile331Val (CYP2C19*1B)

Chromosome 10 Risk Allele A Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Cardiovascular, Antidepressants, Proton Pump Inhibitors

Common CYP2C19 missense variant defining the *1B allele; the G (Val331) allele is the population-major normal-function form, while the rare A (Ile331) allele marks loss-of-function haplotype backgrounds