Research — GeneOps

rs16947 — CYP2D6 *2

Chromosome 22 Risk Allele A Category Pharmacogenomics Pharmacogenomics, Drug Metabolism, Antidepressants, Pain Medication

Common CYP2D6 variant defining the *2 allele; previously considered normal-function but recent evidence shows reduced expression through altered splicing

rs174568 — FADS2 FADS2 C>T (delta-6 desaturase)

Chromosome 11 Risk Allele T Category Triglycerides & Fatty Acids Omega-3, Fat Metabolism, Triglycerides, Cardiovascular, Diet, Inflammation

Intronic regulatory variant in FADS2 encoding delta-6 desaturase, the rate-limiting enzyme for long-chain PUFA synthesis; the T allele reduces conversion of linoleic acid to GLA and ALA to SDA, lowering downstream arachidonic acid, EPA, and DHA production.

rs1884614 — HNF4A HNF4A P2 Promoter rs1884614

Chromosome 20 Risk Allele T Category Hormones & Sleep Pancreatic Beta Cell, Insulin, Hormones, Fasting Glucose, Metabolic Health, Diabetes

Intronic variant tagging the HNF4A P2 promoter risk haplotype; the T allele impairs glucose-stimulated insulin secretion by reducing beta-cell-specific HNF4A isoform expression, and confers elevated diabetes risk with a notably strong effect under metabolic stress (OR 2.44 for post-transplant diabetes)

rs199347 — GPNMB

Chromosome 7 Risk Allele A Category Longevity & Aging Longevity, Neuroinflammation, Parkinson's, Aging, Inflammaging, Brain Health

Intronic GPNMB variant that acts as a brain eQTL; the A allele increases GPNMB expression in cortex and putamen, conferring genome-wide significant Parkinson's disease risk and implicating lysosomal integrity and senescent cell biology in neurological aging

rs2036527 — CHRNA5/CHRNA3

Chromosome 15 Risk Allele A Category Mood & Behavior Mental Health, Addiction, Smoking, Lung Cancer, Neurotransmitters

Cis-regulatory enhancer variant at 15q25.1 that drives CHRNA3 and CHRNA5 expression via chromatin looping, independently associated with nicotine dependence and lung cancer risk — particularly informative in non-European populations

rs2075570 — MUC1 Near gene

Chromosome 1 Risk Allele T Category IBD & Mucosal Immunity Gastric Health, H. pylori, Digestive Health, Cancer Risk, Gut Microbiome

MTX1 intronic variant at 1q22 tagging a gastric cancer susceptibility locus that regulates mucosal integrity via the MUC1/UBAP2L axis

rs2228001 — XPC Lys939Gln

Chromosome 3 Risk Allele G Category Fitness & Body DNA Repair, Fitness, Recovery, Cancer Risk, Skin Cancer, Oxidative Stress

Missense variant in the DNA damage recognition gene XPC that reduces global-genome nucleotide excision repair capacity, affecting recovery from UV-induced damage, exercise-generated oxidative DNA lesions, and environmental carcinogen exposure

rs2231137 — ABCG2 ABCG2 V12M (Val12Met)

Chromosome 4 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Cardiovascular, Drug Metabolism, Uric Acid, Endothelial Health, Inflammation

Missense variant in the ABCG2 transporter that impairs membrane localization and alters efflux of drugs, porphyrins, and urate, with the T allele associated with reduced transporter activity in some cell models

rs2476601 — PTPN22 R620W

Chromosome 1 Risk Allele A Category Autoimmune Tolerance & T-Cell Regulation Autoimmune, Immune System, Rheumatoid Arthritis, Type 1 Diabetes, Lupus, Vitiligo

The strongest non-HLA autoimmune risk allele, affecting T-cell and B-cell signaling threshold

rs2501431 — CNR2 CNR2 rs2501431

Chromosome 1 Risk Allele G Category TNF, NF-kB & Inflammatory Cytokines Endocannabinoid, Autoimmune, Inflammation, Rheumatoid Arthritis, Immune Function, Arthritis

Synonymous coding variant in the cannabinoid receptor 2 gene that tags a haplotype block influencing CB2 receptor expression in immune cells; the G allele (coding-strand C) is associated with elevated rheumatoid arthritis risk and altered endocannabinoid-mediated immune regulation