Research — GeneOps

rs10482605 — NR3C1

Chromosome 5 Risk Allele G Category Longevity & Aging Longevity, Aging, HPA Axis, Cortisol, Stress Response, Metabolic Syndrome, Cardiovascular

NR3C1 promoter variant reducing glucocorticoid receptor transcription; G allele (coding-strand C) associated with blunted GR expression and 4.7-fold increased risk of metabolic syndrome when homozygous

rs104893665 — SPR Arg150Gly

Chromosome 2 Risk Allele G Category Vitamins & Nutrient Absorption Neurotransmitters, Dopamine, Serotonin, Carrier Status, Neurological Risk, Micronutrients

Pathogenic missense variant in sepiapterin reductase that abolishes BH4 biosynthesis, causing dopamine and serotonin deficiency in the brain; homozygosity or compound heterozygosity causes DOPA-responsive dystonia (SPR deficiency, OMIM

rs104894135 — CYP17A1 Ser106Pro

Chromosome 10 Risk Allele G Category Reproductive Hormones Steroid Hormones, Steroid Metabolism, Hypertension, Reproductive Health, Carrier Status, Congenital

Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxylase/17,20-lyase activity; homozygotes develop 17α-hydroxylase deficiency (hypertension, hypokalemia, and sexual infantilism), while heterozygous carriers show subclinical enzyme reduction detectable by ACTH stimulation testing.

rs104894502 — TPM1 E180G

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

Rare pathogenic missense variant in cardiac alpha-tropomyosin causing familial hypertrophic cardiomyopathy through increased calcium sensitivity and impaired muscle relaxation

rs104895431 — NOD2

Chromosome 16 Risk Allele T Category IBD & Mucosal Immunity Innate Immunity, Inflammatory Bowel Disease, Crohn's Disease, Gut Microbiome, Bacterial Sensing, Autoimmune

Rare NOD2 missense variant (Ser431Leu) that reduces NF-κB activation in response to bacterial muramyl dipeptide, independently associated with Crohn's disease risk; often co-inherited on a haplotype with the V793M variant

rs10490924 — ARMS2 A69S

Chromosome 10 Risk Allele T Category Skin & Eyes Eye Health, Aging, Antioxidants, Diet, Supplement, Age-Related Macular Degeneration

Second strongest genetic risk factor for age-related macular degeneration, affecting complement activation and retinal cell oxidative stress

rs1049353 — CNR1 3'UTR (G1359A)

Chromosome 6 Risk Allele T Category Mood & Behavior Endocannabinoid, Addiction, Stress Response, Anxiety, Neurotransmitters, Brain Health, Cannabis

Synonymous exon 4 variant in the cannabinoid receptor 1 gene; near an exon splice enhancer, it alters CB1 mRNA stability and modulates vulnerability to cannabis-induced brain changes, PTSD after trauma, and antidepressant treatment response

rs10515237 — PCSK1 PCSK1 A/G (rs10515237)

Chromosome 5 Risk Allele G Category Appetite & Obesity Insulin, Obesity, Appetite, Pancreatic Beta Cell, Energy Metabolism, Diabetes

Intronic variant in PCSK1 that tags the Q665E-S690T functional haplotype

rs1053049 — PPARD 3'UTR variant

Chromosome 6 Risk Allele C Category Fitness & Body Endurance, Exercise, Fat Metabolism, Cardiovascular, Muscle, Insulin

3'UTR variant in PPARD that acts as the third tag in the elite athlete haplotype (rs2267668/rs2016520/rs1053049); TC carriers show enhanced skeletal muscle glucose uptake and insulin sensitivity; the A/C/C haplotype containing this C allele is dramatically underrepresented in elite athletes

rs1058322 — ADIPOR2

Chromosome 12 Risk Allele T Category Fat Storage & Energy Adipogenesis, Cardiovascular, Fat Metabolism, Insulin Resistance, Metabolic Health, Omega-3

Intronic ADIPOR2 variant whose T allele reduces receptor expression in immune cells and is associated with dose-dependent cardiovascular disease risk in people with impaired glucose tolerance