Research — GeneOps

rs104894007 — GCK Thr228Met (MODY2)

Chromosome 7 Risk Allele A Category Blood Sugar & Diabetes Diabetes, MODY, Pancreatic Beta Cell, Fasting Glucose, Carrier Status, Genetic Counseling

Pathogenic glucokinase missense variant that nearly abolishes enzyme activity (Kcat/S0.5 ratio 0.0001 vs wild-type), causing autosomal dominant maturity-onset diabetes of the young type 2 (MODY2) in heterozygous carriers — lifelong mild stable fasting hyperglycemia that does not require pharmacological treatment

rs104894142 — CYP17A1 R362C (Arg362Cys)

Chromosome 10 Risk Allele A Category Reproductive Hormones Fertility, Reproductive Health, Steroid Hormones, Hormones, Congenital, Genetic Counseling

Pathogenic CYP17A1 missense variant causing combined 17α-hydroxylase/17,20-lyase deficiency; homozygotes lose all sex steroid and cortisol synthesis, developing hypertension, hypokalemia, and absent puberty; heterozygous carriers are asymptomatic but carry reproductive risk

rs104894797 — DMD Arg3182Ter (R3182*)

Chromosome X Risk Allele A Category Cardiomyopathy & Structural Heart Cardiovascular, Heart Disease, Muscle, Genetic Counseling, Carrier Status, Arrhythmia

Pathogenic nonsense variant in dystrophin creating a premature stop codon at position 3182, causing X-linked dilated cardiomyopathy and Duchenne/Becker muscular dystrophy with prominent cardiac involvement

rs1049793 — AOC1 His645Asp

Chromosome 7 Risk Allele G Category Methylation & Detox Histamine, Food Sensitivity, Detoxification

DAO structural variant near the catalytic domain affecting histamine degradation

rs1058164 — CYP2D6

Chromosome 22 Risk Allele C Category Pharmacogenomics Pharmacogenomics, Drug Metabolism, Antidepressants, Pain Medication, Mental Health

Synonymous CYP2D6 variant that promotes exon 3 skipping, reducing functional enzyme expression by ~50% and affecting metabolism of ~25% of prescription drugs

rs10882283 — RBP4 RBP4 rs10882283

Chromosome 10 Risk Allele C Category Fat Storage & Energy Insulin Resistance, Diabetes, Vitamin A, Adipogenesis, Metabolic, Obesity

5' UTR variant in RBP4 that influences expression of retinol binding protein 4, an adipokine associated with insulin resistance and type 2 diabetes susceptibility when elevated

rs10889160 — CYP2J2

Chromosome 1 Risk Allele C Category Vascular Inflammation & Remodeling Cardiovascular, Inflammation, Heart Disease, Arrhythmia, Omega-3, Lipid Metabolism

Intronic CYP2J2 tag SNP; the C allele marks a haplotype associated with reduced epoxyeicosatrienoic acid (EET) production and increased myocardial infarction risk through impaired cardioprotective vasodilation

rs10889677 — IL23R

Chromosome 1 Risk Allele A Category IBD & Mucosal Immunity Autoimmune, Inflammation, IBD, Arthritis, Eye Health, Immune & Autoimmune

3' UTR and intronic IL23R variant disrupting Let-7e/Let-7f miRNA binding — the A allele elevates IL-23 receptor expression and is associated with ankylosing spondylitis, inflammatory bowel disease, and rheumatoid arthritis susceptibility; the C allele was independently associated with Graves' ophthalmopathy in a Caucasian cohort

rs11037909 — EXT2

Chromosome 11 Risk Allele C Category Appetite & Obesity Diabetes, Insulin Resistance, Pancreatic Beta Cell, Energy Metabolism, Metabolic Health, Obesity

Intronic EXT2 variant associated with a modest increase in type 2 diabetes susceptibility; the C allele impairs heparan sulfate-mediated insulin signaling in adipose tissue and pancreatic beta-cells.

rs11079788 — TBX21 TBX21 Regulatory Variant

Chromosome 17 Risk Allele C Category Allergy & Atopic Disease Asthma, T-Cell Regulation, Inflammation, Autoimmune, Immune Response, Skin Health

Intronic regulatory variant in TBX21 that influences T-bet expression and Th1/Th2 immune balance; the minor T allele is associated with elevated regulatory T-cell markers and reduced early-childhood atopic dermatitis risk, while the common C allele is linked to lower CD4+CD25+ Treg frequency and higher susceptibility to atopic disease