Research — GeneOps

rs4646976 — CYP2E1

Chromosome 10 Risk Allele G Category Pharmacogenomics Drug Metabolism, Liver, Pharmacogenomics, Carcinogen Metabolism, Phase I, Environmental Toxins

CYP2E1 intronic haplotype tag — affects enzyme activity and susceptibility to drug-induced liver injury and chemical toxicity

rs4988235 — LCT -13910C>T

Chromosome 2 Risk Allele G Category Methylation & Detox Lactose, Food Sensitivity, Diet

Lactase persistence - ability to digest lactose (milk sugar) in adulthood

rs6031551 — HNF4A HNF4A Regulatory Variant

Chromosome 20 Risk Allele C Category Blood Sugar & Diabetes Diabetes, Insulin, Insulin Resistance, Energy Metabolism, Metabolic Health, HDL Cholesterol

Intronic variant 80 bp from rs6031552 within the HNF4A P2 promoter haplotype block; part of a nine-SNP panel associated with insulin resistance and lower HDL in carriers

rs3024971 — STAT6

Chromosome 12 Risk Allele G Category Allergy & Atopic Disease JAK-STAT Signaling, Asthma, Inflammation, Autoimmune, Skin Health, T-Cell Regulation

Intronic variant in STAT6 near the 3' end of the gene that modulates STAT6 mRNA expression; the G allele is associated with atopic dermatitis risk and elevated Th2 immune tone through the same IL-4/IL-13 signaling pathway that drives allergic disease

rs4532 — DRD1

Chromosome 5 Risk Allele T Category Neurology & Cognition Dopamine, Cognition, Brain Health, Neurotransmitters, Memory

Regulatory 5'UTR variant in the dopamine D1 receptor gene influencing receptor density and cognitive efficiency under high cognitive load

rs4803217 — IFNL3 3'UTR

Chromosome 19 Risk Allele A Category Pharmacogenomics Innate Immunity, Inflammation, Infectious Disease, Interferon, Immune & Autoimmune

3' untranslated region variant in IFNL3 (IL28B) that controls mRNA stability via AU-rich elements and miRNA binding — independently predicts hepatitis C spontaneous clearance and treatment response

rs567754 — BHMT BHMT-02

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

Intronic variant in betaine-homocysteine methyltransferase gene associated with selenium levels but no known disease risk

rs6031552 — HNF4A HNF4A Regulatory Variant

Chromosome 20 Risk Allele A Category Blood Sugar & Diabetes Diabetes, Insulin, Energy Metabolism, Metabolic Health, Liver Health, HDL Cholesterol

Intronic variant tagging the HNF4A P2 promoter haplotype; carriers have modestly elevated risk for impaired insulin secretion and type 2 diabetes

rs76428106 — FLT3 FLT3 Intronic Splice Variant

Chromosome 13 Risk Allele C Category Hormones & Sleep Thyroid, Autoimmune, Autoimmunity, Immune System, Hormones & Thyroid, Hormones

Low-frequency intronic variant in FLT3 that creates a cryptic splice site, truncating the receptor in 30% of transcripts and doubling plasma FLT3 ligand per allele, substantially increasing risk of autoimmune thyroid disease (Hashimoto's) and other autoimmune conditions

rs324011 — STAT6

Chromosome 12 Risk Allele T Category Allergy & Atopic Disease JAK-STAT Signaling, Inflammation, Autoimmune, Asthma, Skin Health, T-Cell Regulation

Intronic variant in STAT6 (intron 2) that creates an NF-κB binding site, increasing STAT6 promoter activity; the T allele is associated with elevated total serum IgE and increased risk for atopic dermatitis, asthma, and allergic rhinitis through enhanced Th2 signaling