Research — GeneOps

rs1042044 — GLP1R Leu260Phe

Chromosome 6 Risk Allele A Category Pharmacogenomics Drug Response, Pharmacogenomics, Obesity, Diabetes

GLP-1 receptor variant in intracellular loop 2 that alters receptor surface expression and signaling, influencing antipsychotic response, cortisol regulation, and bone metabolism

rs10423928 — GIPR

Chromosome 19 Risk Allele A Category Blood Sugar & Diabetes Diabetes, Insulin, Diet, Cardiovascular, Fat Metabolism

Intronic GIPR variant that reduces functional GIP receptor expression via altered splicing, impairing the incretin-mediated insulin response while paradoxically lowering BMI

rs10483099 — QDPR

Chromosome 22 Risk Allele T Category Methylation & Detox Methylation & Detox, Neurotransmitters, Nitric Oxide, B Vitamins, Cardiovascular, Dopamine

Intronic variant near QDPR that affects BH4 recycling efficiency, influencing neurotransmitter synthesis and nitric oxide production

rs104894137 — CYP17A1 Pro342Thr

Chromosome 10 Risk Allele T Category Reproductive Hormones Fertility, Reproductive Health, Steroid Hormones, Steroid Metabolism, Hormones, Hypertension

Missense variant in CYP17A1 reducing both 17α-hydroxylase and 17,20-lyase activities to 40–45% of normal; causes partial combined 17α-hydroxylase/17,20-lyase deficiency with variable sex steroid deficiency, mineralocorticoid excess, and impaired fertility

rs104894503 — TPM1 D175N (Asp175Asn)

Chromosome 15 Risk Allele A Category Cardiomyopathy & Structural Heart Heart Disease, Cardiovascular, Genetic Counseling, Carrier Status, Biomarkers

Pathogenic alpha-tropomyosin missense variant that increases thin filament calcium sensitivity, causing familial hypertrophic cardiomyopathy; a founder mutation accounting for ~6.5% of HCM cases in Finland

rs104895467 — NOD2 NOD2 N852S

Chromosome 16 Risk Allele G Category IBD & Mucosal Immunity Innate Immunity, Inflammatory Bowel Disease, Crohn's Disease, Gut Microbiome, Bacterial Sensing, Ancestry-Specific

Rare NOD2 missense variant (Asn852Ser) that impairs innate immune sensing of bacterial peptidoglycan and is associated with Crohn's disease risk; markedly enriched in Ashkenazi Jewish populations (~1.6%)

rs1050152 — SLC22A4 OCTN1 L503F

Chromosome 5 Risk Allele T Category Allergy & Atopic Disease IBD, Inflammation, Gut Health, Immune Function, Autoimmune, Gut Barrier

Missense variant in SLC22A4 encoding the organic cation/ergothioneine transporter OCTN1; the T allele (503F) increases ergothioneine transport efficiency and forms part of the IBD5 two-locus TC risk haplotype associated with Crohn's disease and other inflammatory conditions; strongly enriched in Europeans

rs10507391 — ALOX5AP SG13S114 intron variant

Chromosome 13 Risk Allele A Category Vascular Inflammation & Remodeling Atherosclerosis, Inflammation, Cardiovascular, Cerebrovascular, Heart Disease, Leukotriene

Intronic ALOX5AP variant in the HapA haplotype; the A allele is associated with elevated leukotriene production and increased leukotriene-mediated vascular inflammation, with population-specific associations with ischemic stroke and systemic sclerosis-related interstitial lung disease

rs10515522 — NR3C1

Chromosome 5 Risk Allele C Category Longevity & Aging Longevity, Aging, Stress Response, HPA Axis, Cortisol, Cholesterol

Intronic NR3C1 variant associated with longevity in Polish nonagenarians and centenarians; the C minor allele correlates with better survival rates and altered cholesterol metabolism

rs1051730 — CHRNA3 Tyr215Tyr

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

CHRNA3 synonymous variant in the nicotinic receptor gene cluster strongly associated with heavy smoking, nicotine dependence, lung cancer, and COPD, with independent effects in non-European populations