Research — GeneOps

rs4810485 — CD40

Chromosome 20 Risk Allele G Category B-Cell Immunity & Antibody-Mediated Disease Immune & Autoimmune, Rheumatoid Arthritis, Inflammation, Bone Health, Immune & Gut, B-Cell Signaling, Autoimmune, Thyroid, Biologic Therapy

Intronic variant in CD40 regulating B-cell surface expression; the G allele drives higher CD40 levels and is shared risk across rheumatoid arthritis and SLE

rs6008845 — PPARA PPARA intronic C/T

Chromosome 22 Risk Allele C Category Atherogenic Lipoproteins Pharmacogenomics, Cardiovascular, Lipid Metabolism, Statins, Heart Disease, Fat Metabolism

Regulatory PPARA variant where TT homozygotes with type 2 diabetes experience a 51% reduction in major cardiovascular events when treated with fenofibrate, while C-allele carriers show no cardiovascular benefit from the drug

rs6162 — CYP17A1 His46=

Chromosome 10 Risk Allele A Category Reproductive Hormones Steroid Hormones, Steroid Metabolism, Testosterone, Reproductive Health, Cortisol, Cancer Risk

Synonymous coding variant in CYP17A1 that tags a haplotype linked to altered DHEA-S levels and steroid production; associated with prostate cancer progression and castration-resistant prostate cancer risk

rs73885316 — APOL1 p.N264K

Chromosome 22 Risk Allele A Category Uric Acid & Kidney Function Kidney Disease, Kidney Function, Nephrology, Ancestry-Specific, Renal Function, Cardiovascular

Protective missense modifier in APOL1 that abolishes G2 risk allele cytotoxicity, strongly reducing kidney disease risk in carriers of G2-containing high-risk genotypes

rs780094 — GCKR

Chromosome 2 Risk Allele T Category Liver Fat Triglycerides, Fat Metabolism, Insulin, Diabetes, Cardiovascular, Diet

Intronic GCKR variant in strong LD with the coding P446L substitution (rs1260326); the T allele increases hepatic glucokinase activity, lowering fasting glucose and insulin while raising triglycerides, CRP, and NAFLD risk — a striking metabolic trade-off driven by excess hepatic de novo lipogenesis

rs7944926 — DHCR7

Chromosome 11 Risk Allele A Category Vitamin D Metabolism Vitamin D, Bone Health, Immune System, Cholesterol, Cardiovascular

Near-gene intronic variant in the DHCR7/NADSYN1 locus on chromosome 11 that tags lower circulating vitamin D3 synthesis capacity; a near-perfect proxy for the canonical vitamin D synthesis SNP rs12785878

rs12044852 — CD58

Chromosome 1 Risk Allele C Category Neurology & Cognition Immune & Gut, Multiple Sclerosis, T-Cell Regulation, Autoimmune, Neuroinflammation, Drug Metabolism

Intronic CD58 variant in strong LD with rs2300747 (r²=0.929); the C allele drives MS susceptibility (OR 2.22 for CC) and predicts poor IFN-beta therapy response — the pharmacogenomic dimension absent from its LD partner

rs12610022 — INSR

Chromosome 19 Risk Allele G Category Blood Sugar & Diabetes Insulin, Insulin Resistance, Diabetes, Metabolic, Energy Metabolism

Intronic INSR variant that may alter insulin receptor expression or isoform balance, linked to insulin signaling and psychiatric risk

rs12946510 — IKZF3 IKZF3 17q21 FOXO1-enhancer variant

Chromosome 17 Risk Allele C Category Allergy & Atopic Disease Asthma, Innate Immunity, Inflammation, Lung Health, Autoimmune, Immune Response

Regulatory variant in a FOXO1-binding enhancer element flanking the IKZF3 gene at 17q21; the C allele maintains FOXO1/MEF2A binding and is associated with elevated ORMDL3, GSDMB, and IKZF3 expression, higher asthma susceptibility, and risk for several autoimmune conditions; the T allele disrupts these binding sites, reducing expression of all three genes and is protective for asthma but associated with increased risk for multiple sclerosis and IBD

rs1532268 — MTRR MTRR S175L

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

Missense variant in methionine synthase reductase that raises homocysteine when vitamin B12 is low, affecting B12-dependent methylation efficiency