Research — GeneOps

rs515726176 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.

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

The CPT2 gene encodes carnitine palmitoyltransferase II(https://www.ncbi.nlm.nih.gov/books/NBK1253/). Without functional CPT2, long-chain fatty acids cannot be burned efficiently — a problem that becomes acute during prolonged exercise, fasting, fever, or cold, when the body depends heavily on fat as its primary...

rs10925254 Deep intronic MTR variant associated with reduced cleft lip/palate risk via lower methionine synthase expression

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

Methionine synthase (MTR) performs one of the most consequential single-step reactions in human metabolism: it converts homocysteine() back to methionine using methylcobalamin (active vitamin B12) as a cofactor and 5-methyltetrahydrofolate (methylfolate) as the methyl donor. The methionine produced is then converted...

rs1143699 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

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

The PTPRS gene encodes receptor protein tyrosine phosphatase sigma (RPTPσ), a cell-surface enzyme that belongs to the LAR subfamily of receptor-type phosphatases. Although expressed broadly across tissues, PTPRS is particularly abundant in adipose tissue and the brain(https://www.ncbi.nlm.nih.gov/gene/5802), two...

rs11657479 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

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

T-bet(https://pubmed.ncbi.nlm.nih.gov/19362357/) is the central switch in adaptive immune polarization. When T-bet levels are high, IFN-γ-producing Th1 responses dominate — well-calibrated for intracellular pathogens but also prone to driving spondyloarthritis and autoimmune inflammation when unchecked. When T-bet...

rs1175544 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

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

PPARG encodes Peroxisome Proliferator-Activated Receptor Gamma(https://www.ncbi.nlm.nih.gov/gene/5468), the protein that determines how efficiently precursor cells develop into mature fat cells and how sensitively those cells respond to insulin. It is also the molecular target of...

rs117896735 Intronic variant in the INPP5F/BAG3 locus associated with increased risk of REM sleep behavior disorder — an early marker of Lewy body neurodegeneration

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

REM sleep behavior disorder (RBD)(https://pubmed.ncbi.nlm.nih.gov/36470867/) is no ordinary sleep disturbance. It sits at the far upstream end of the Parkinson's disease continuum — years before motor symptoms emerge and dopamine neurons begin to die. This variant, rs117896735, sits in an intron of the INPP5F gene...

rs121918391 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

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

Apolipoprotein B-100 (apoB-100) is the structural backbone of every LDL particle in your blood. It is one of the largest proteins in the human body — 4,536 amino acids — and its sheer size is what allows it to scaffold a lipoprotein shell large enough to carry thousands of cholesterol and triglyceride molecules...

rs12721627 Missense variant reducing CYP3A4 enzyme activity by 50–74% depending on substrate, found primarily in East Asian populations at ~2% allele frequency

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

CYP3A4 is the most abundant drug-metabolizing enzyme in the human liver and intestine, handling roughly 50% of all clinically used drugs(https://pubmed.ncbi.nlm.nih.gov/19255940/). The CYP3A416 allele (rs12721627, c.554CG on the coding strand, p.Thr185Ser) substitutes a serine for threonine at position 185 of the...

rs1369481 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

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

NPAS2 (Neuronal PAS Domain Protein 2) is the brain-specific paralog of the master circadian clock gene CLOCK. In the forebrain and limbic system, NPAS2 forms heterodimers with BMAL1 to drive the transcription of downstream clock-controlled genes — those that regulate sleep timing, hormone secretion, cell-cycle...

rs142967670 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

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

Glutaryl-CoA dehydrogenase (GCDH) is a mitochondrial enzyme responsible for breaking down three amino acids — lysine, hydroxylysine, and tryptophan — in the final steps of their catabolism. When GCDH fails, its toxic substrates (glutaric acid and 3-hydroxyglutaric acid) accumulate and cause striatal...