Research — GeneOps

rs515726176 — CPT2

Chromosome 1 Risk Allele C Category Liver Fat Fat Metabolism, Mitochondria, Muscle, Energy Metabolism, Carrier Status

Rare CPT2 missense variant (p.Arg382Thr) that reduces carnitine palmitoyltransferase II activity, impairing long-chain fatty acid transport into mitochondria and increasing risk of exercise-induced rhabdomyolysis in homozygous carriers.

rs10925254 — MTR

Chromosome 1 Risk Allele T Category Methylation & Detox Methylation, B Vitamins, Homocysteine, Folate, Craniofacial, Embryo Development

Deep intronic MTR variant associated with reduced cleft lip/palate risk via lower methionine synthase expression

rs1143699 — PTPRS PTPRS C/T (rs1143699)

Chromosome 19 Risk Allele A Category Blood Sugar & Diabetes Diabetes, Insulin, Pancreatic Beta Cell, Metabolic Syndrome, Insulin Resistance, Energy Metabolism

Synonymous PTPRS variant associated with increased type 2 diabetes risk in men with the homozygous risk genotype, acting through impaired pancreatic beta-cell insulin secretion

rs11657479 — TBX21 TBX21 3' UTR Variant

Chromosome 17 Risk Allele C Category Allergy & Atopic Disease T-Cell Regulation, Asthma, Autoimmune, Inflammation, Immune Response, Immune Function

A 3' UTR variant in TBX21 (c.*169T>C) that modulates T-bet expression; the C allele increases T-bet levels in immune cells and shifts the Th1/Th2 axis toward Th1, reducing classic atopic susceptibility while elevating risk for Th1-driven inflammatory conditions including ankylosing spondylitis

rs1175544 — PPARG PPARG rs1175544

Chromosome 3 Risk Allele T Category Fat Storage & Energy Diabetes, Obesity, Adipogenesis, Diet, Energy Metabolism, Metabolic Health

Intronic PPARG variant that accounts for ~7% of individual variation in body weight reduction during calorie restriction; the T allele also appears in PPARG haplotypes associated with metabolic and glucose traits across several populations

rs117896735 — INPP5F

Chromosome 10 Risk Allele A Category Neurology & Cognition Parkinson's, Neurodegeneration, Sleep, Autophagy, Neurological Risk

Intronic variant in the INPP5F/BAG3 locus associated with increased risk of REM sleep behavior disorder — an early marker of Lewy body neurodegeneration

rs121918391 — APOB APOB Tyr1200Ter

Chromosome 2 Risk Allele T Category Cholesterol & Lipoproteins Cholesterol, Fat Metabolism, Cardiovascular, Diet, Triglycerides

Rare APOB stop-gain variant that truncates apolipoprotein B to ~27% of its full length, causing familial hypobetalipoproteinemia with very low LDL-C, hepatic steatosis risk, and fat-soluble vitamin malabsorption in the heterozygous state

rs12721627 — CYP3A4 *16

Chromosome 7 Risk Allele C Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Statins, Cancer Treatment, Cardiovascular, Antidepressants

Missense variant reducing CYP3A4 enzyme activity by 50–74% depending on substrate, found primarily in East Asian populations at ~2% allele frequency

rs1369481 — NPAS2

Chromosome 2 Risk Allele T Category Hormones & Sleep Circadian, Sleep, Cancer Risk, Prostate, Mood

Intronic variant in the brain-specific circadian transcription factor NPAS2; the T allele has been associated with prostate cancer susceptibility in a single candidate-gene study but lacks GWAS-level replication

rs142967670 — GCDH R88C

Chromosome 19 Risk Allele T Category Metabolic Enzymes & Rare Disorders Carrier Status, Genetic Counseling, Metabolic, Metabolism, Micronutrients, Energy Metabolism

Pathogenic missense variant in glutaryl-CoA dehydrogenase; homozygosity causes glutaric acidemia type 1, an organic acidemia leading to striatal necrosis and movement disorders if untreated; heterozygotes are unaffected carriers relevant for family planning