Research — GeneOps

rs564398 — CDKN2B-AS1

Chromosome 9 Risk Allele T Category Blood Sugar & Diabetes Diabetes, Pancreatic Beta Cell, Insulin, Metabolic, Cardiovascular, Cancer Risk

Secondary T2D risk variant at the 9p21 CDKN2A/B locus within ANRIL (CDKN2B-AS1); the T risk allele impairs glucose-stimulated pancreatic beta-cell proliferation, conferring a modest but independently replicated ~8% increased type 2 diabetes risk per allele

rs6166 — FSHR Asn680Ser (N680S)

Chromosome 2 Risk Allele C Category Hormones & Sleep Reproductive Health, Hormones, Fertility, PCOS, Pharmacogenomics

Affects FSH receptor sensitivity, determining ovarian response to FSH stimulation and influencing fertility treatment dosing in both women and men

rs968567 — FADS2 FADS2 Promoter D6D Activity Variant

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

Promoter variant in FADS2 that increases delta-6 desaturase (D6D) expression via ELK1 transcription factor binding; the minor T allele elevates D6D activity, accelerating conversion of dietary omega-6 and omega-3 precursors to long-chain PUFAs with downstream effects on arachidonic acid production and inflammatory mediator balance.

rs2851301 — ADH5 ADH5 Second NF-kB Site Variant

Chromosome 4 Risk Allele C Category Allergy & Atopic Disease Asthma, Inflammation, Nitric Oxide, Lung Health, Oxidative Stress, Detoxification

Upstream promoter variant in ADH5 at a potential NF-kB binding site; the minor T allele is proposed to disrupt NF-kB-driven GSNOR transcription, reducing S-nitrosoglutathione catabolism and providing protection against childhood asthma

rs3785883 — MAPT H1h Sub-haplotype Tag

Chromosome 17 Risk Allele A Category Neurology & Cognition Neurological Risk, Parkinson's, Tau Pathology, Brain Health, Aging, Dementia

Intronic MAPT variant whose A allele defines the H1h sub-haplotype — a configuration distinct from H1c — independently associated with non-tremor dominant Parkinson's disease at OR 2.9 after Bonferroni correction, and sharing no meaningful linkage disequilibrium with the H1c-defining markers rs242557 or rs2471738 (r² ≈ 0.01)

rs4149056 — SLCO1B1 *5

Chromosome 12 Risk Allele C Category Pharmacogenomics Drug Metabolism, Statins, Cardiovascular, Liver

Statin transport - affects muscle side effect risk with statins

rs4680 — COMT Val158Met

Chromosome 22 Risk Allele A Category Methylation & Detox Methylation, Neurotransmitters, Detoxification, Dopamine, Mood, Mental Health, Pain

Dopamine/catecholamine breakdown — affects stress response and methyl donor tolerance

rs587777380 — DYRK1B H90P / H90R

Chromosome 19 Risk Allele G Category Blood Sugar & Diabetes Diabetes, Obesity, Metabolic Syndrome, Cardiovascular, Insulin Resistance, Fat Distribution

Multi-allelic pathogenic locus — both H90P (T>G) and H90R (T>C) disrupt the DYRK1B DH box, causing AOMS3 (early-onset central obesity, type 2 diabetes, hypertension, coronary artery disease) via impaired kinase maturation

rs6885099 — PDE8B PDE8B TSH variant

Chromosome 5 Risk Allele G Category Hormones & Sleep Thyroid, Hormones & Thyroid, Hormones, Metabolism, Cardiovascular

Intronic TSH quantitative trait locus in phosphodiesterase 8B — the G allele raises the thyroid set-point, increasing hypothyroidism risk and potentially affecting levothyroxine dose requirements

rs9951026 — LIPG

Chromosome 18 Risk Allele A Category Triglycerides & Fatty Acids Fat Metabolism, Cholesterol, Cardiovascular, Triglycerides, HDL Cholesterol

Intronic LIPG variant that tags a haplotype associated with higher LDL cholesterol and apolipoprotein B, with effects on lipid profiles that are substantially modified by physical activity