Research — GeneOps

rs137853096 — HSD17B4 Gly16Ser

Chromosome 5 Risk Allele A Category Metabolic Enzymes & Rare Disorders Lipid Metabolism, Hearing Loss, Ovarian Reserve, Carrier Status, Vitamins, Reproductive Health, Genetic Counseling

Pathogenic missense variant in D-bifunctional protein (p.Gly16Ser) disrupting peroxisomal fatty acid beta-oxidation; homozygous or compound heterozygous carriers develop either severe neonatal DBP deficiency or the milder Perrault syndrome (sensorineural hearing loss and ovarian insufficiency); heterozygous carriers are unaffected

rs13900 — CCL2 CCL2 3'UTR variant

Chromosome 17 Risk Allele T Category Vascular Inflammation & Remodeling Atherosclerosis, Cardiovascular, Inflammation, Innate Immunity, Immune Response

3'UTR variant that increases CCL2 mRNA stability via enhanced HuR binding, elevating MCP-1 protein output and monocyte recruitment in arterial inflammation

rs1421405659 — MYBPC1 Leu259Pro

Chromosome 12 Risk Allele C Category Fitness & Body Muscle, Congenital, Fitness, Neuropathy, Neurological Risk, Injury Risk

Ultra-rare dominant missense variant in slow skeletal myosin-binding protein C that disrupts sarcomere structure, causing early-onset myopathy with myogenic tremor (MYOTREM) and, in some families, distal arthrogryposis.

rs1529868 — GREB1 GREB1 rs1529868

Chromosome 2 Risk Allele T Category Endometriosis & Uterine Health Endometriosis, Estrogen, Fertility, Reproductive Health, Women's Health, Hormones

Intronic GREB1 variant at 2p25.1 (c.772+34) in high LD (r²=0.853 CEU) with the established endometriosis lead SNP rs11674184; the T allele tags the rs11674184-T endometriosis susceptibility signal and is the risk-associated allele at this locus

rs1693482 — ADH1C Arg272Gln (ADH1C*1/*2)

Chromosome 4 Risk Allele C Category Mood & Behavior Addiction, Alcohol, Cancer Risk, Liver Health, Detoxification, Carcinogen Metabolism

ADH1C variant defining the fast (ADH1C*1, Arg272) vs slow (ADH1C*2, Gln272) alcohol dehydrogenase isoforms; ADH1C*1 metabolizes ethanol ~2.5x faster, elevating cancer risk in heavy drinkers, while ADH1C*2 slows metabolism and reduces alcohol use disorder risk

rs17228212 — SMAD3

Chromosome 15 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Cardiovascular, Atherosclerosis, Inflammation, Fibrosis, Heart Disease

Intronic variant in the TGF-beta signaling gene SMAD3 associated with vascular smooth muscle cell regulation and variable coronary artery disease risk across populations

rs174537 — FADS1

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

Regulatory variant in the FADS1 locus that controls delta-5 desaturase expression via promoter methylation, altering conversion of omega-6 and omega-3 precursors to long-chain PUFAs; the G allele drives higher arachidonic acid and cardiovascular risk while the T allele impairs EPA synthesis from plant-based omega-3

rs17782313 — MC4R Near-gene C>T

Chromosome 18 Risk Allele C Category Appetite & Obesity Appetite, Obesity, Metabolic, Diet, Insulin, Cardiovascular, Diabetes

Intergenic variant 188kb downstream of MC4R affecting appetite regulation, meal size, and obesity risk

rs182506368 — SLC39A4 SLC39A4 p.Ala99Thr

Chromosome 8 Risk Allele T Category Vitamins & Nutrient Absorption Zinc, Minerals, Micronutrients, Carrier Status, Genetic Counseling, Skin Health

Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing hereditary acrodermatitis enteropathica when homozygous; heterozygotes are asymptomatic carriers with near-normal zinc absorption

rs1978060 — TBX1

Chromosome 22 Risk Allele G Category Innate Immunity & Infection Defense Innate Immunity, Embryo Development, Immune System, Infection Risk, T-Cell Regulation, Hearing Loss

Intronic variant in TBX1 acting as a cis-eQTL that reduces TBX1 expression and increases susceptibility to adolescent idiopathic scoliosis; TBX1 is the principal gene responsible for DiGeorge syndrome and governs pharyngeal arch and spinal musculature development