Research — GeneOps

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

rs3776455 — MTRR

Chromosome 5 Risk Allele C Category Methylation & Detox Methylation, B Vitamins, Homocysteine, Folate

Intronic MTRR variant associated with altered folate-pathway cancer risk and B12-dependent homocysteine metabolism

rs4812829 — HNF4A HNF4A Intronic T2D Risk Variant

Chromosome 20 Risk Allele A Category Blood Sugar & Diabetes Diabetes, Insulin, Metabolic Health, Energy Metabolism, Insulin Resistance, Diet

Common intronic variant in HNF4A associated with modestly elevated type 2 diabetes risk via reduced pancreatic beta-cell function; identified through GWAS in South Asian and European populations

rs4926 — SERPING1 Val480Met

Chromosome 11 Risk Allele A Category Hormones & Sleep Sleep, Neuroinflammation, Complement, Innate Immunity, Inflammation, Hereditary Angioedema, Complement System

Missense variant in C1-inhibitor gene associated with insomnia risk through neuroinflammatory and blood-brain barrier mechanisms

rs5956 — CD36

Chromosome 7 Risk Allele A Category Triglycerides & Fatty Acids Fat Metabolism, Cardiovascular, Cholesterol, Metabolic, Diet

Synonymous coding variant in CD36 fatty acid translocase; the minor A allele is associated with lower atheromatous plaque thickness and altered left ventricular diastolic parameters, likely through linked regulatory changes that affect CD36 expression.

rs709158 — PPARG

Chromosome 3 Risk Allele G Category Fat Storage & Energy Adipogenesis, LDL Cholesterol, Metabolic Health, Insulin, Fat Metabolism, Cardiovascular

Intronic PPARG variant in strong linkage disequilibrium with rs1175543; the G allele is associated with higher LDL-cholesterol and participates in multi-locus interactions affecting abdominal obesity, CRP, and metabolic trait variation.

rs9536314 — KLOTHO F352V (KL-VS)

Chromosome 13 Risk Allele G Category Longevity & Aging Mental Health, Longevity, Cardiovascular, Alzheimer's, Neurotransmitters

Longevity-associated variant exhibiting overdominance where heterozygotes show enhanced cognition and lifespan while homozygotes have reduced survival

rs2244012 — RAD50 RAD50 Intron 2 Variant

Chromosome 5 Risk Allele G Category Allergy & Atopic Disease Asthma, Inflammation, Immune Response, Autoimmune, T-Cell Regulation, Skin Health

Intronic variant in RAD50 on chromosome 5q31.1 that was the top GWAS hit for asthma at this locus (P=3.04×10⁻⁷); the G allele tags a regulatory haplotype in the Th2 locus control region and is associated with elevated serum IgE and susceptibility to asthma and atopic disease through amplified IL-4/IL-13 output