Research — GeneOps

rs104894502 Rare pathogenic missense variant in cardiac alpha-tropomyosin causing familial hypertrophic cardiomyopathy through increased calcium sensitivity and impaired muscle relaxation

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

Your heart contracts and relaxes roughly 100,000 times a day. Each cycle depends on a molecular off-switch: a protein called tropomyosin(https://pubmed.ncbi.nlm.nih.gov/8205619/) that sits like a lid on actin filaments, blocking the cardiac motor machinery until calcium says "go." The TPM1 E180G variant — a single...

rs104895444 Rare NOD2 missense variant (Val793Met) identified in IBD deep-resequencing; contributes to Crohn's disease risk primarily in compound heterozygous state with other NOD2 variants

Chromosome 16 Risk Allele A Category IBD & Mucosal Immunity Tags Crohn's Disease, IBD, Innate Immunity, Gut Health, Autoimmune, Inflammation

The NOD2 gene encodes a cytosolic pattern recognition receptor(https://pubmed.ncbi.nlm.nih.gov/11385576/) that detects bacterial cell-wall fragments and mounts an immune defense in the intestinal lining. It was the first gene identified for Crohn's disease(https://pubmed.ncbi.nlm.nih.gov/11385576/) susceptibility...

rs1048990 5'UTR variant that enhances PSMA6 transcription, amplifying proteasome-driven NF-κB signalling and increasing chronic inflammatory risk across cardiovascular and autoimmune conditions

Chromosome 14 Risk Allele G Category Innate Immunity & Infection Defense Tags Innate Immunity, Inflammation, Cardiovascular, Heart Disease, Autoimmunity, Immune System

Every cell in your body runs a continuous protein quality-control operation called the ubiquitin-proteasome system (UPS)(https://www.ncbi.nlm.nih.gov/gene/5687). The 20S core proteasome is assembled from alpha and beta subunits; PSMA6 encodes the alpha-6 subunit, which forms part of the outer rings that gate...

rs10505806 Intergenic variant near MGST1 that modifies whether aspirin/NSAIDs reduce colorectal cancer risk; T allele carriers may lose the protective benefit

Chromosome 12 Risk Allele T Category Vascular Inflammation & Remodeling Tags Aspirin Response, Colorectal Cancer, Cancer Risk, Inflammation, Cardiovascular

Aspirin and NSAIDs are among the best-studied cancer-prevention agents in medicine. Regular aspirin use is associated with a roughly 30% lower risk of colorectal cancer(https://pubmed.ncbi.nlm.nih.gov/25781442/) — a finding replicated across dozens of cohort and case-control studies. But this protection is not...

rs10514299 Intronic variant near the MEF2C transcription factor locus associated with increased risk of major depressive disorder through altered neuronal synapse regulation

Chromosome 5 Risk Allele T Category Mood & Behavior Tags Depression, Mood, Neuroplasticity, Brain Health, Mental Health, Serotonin

Not all depression has the same biological roots. For roughly one in four people of European ancestry who carry at least one copy of the T allele at rs10514299, a portion of that vulnerability may trace back to the MEF2C locus(https://www.ncbi.nlm.nih.gov/gene/4208) on chromosome 5q14.3. This variant sits within a...

rs10515237 Intronic variant in PCSK1 that tags the Q665E-S690T functional haplotype, reducing prohormone convertase 1/3 activity and impairing processing of proinsulin to insulin and POMC to satiety peptides

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

Every time your pancreas detects rising blood sugar, it doesn't release insulin directly — it releases proinsulin, a folded precursor that needs to be cut open before it becomes active. The enzyme doing that cutting is prohormone convertase 1/3 (PC1/3) (https://pubmed.ncbi.nlm.nih.gov/27187081/), the protein encoded...

rs1052373 Cardiac myosin-binding protein variant strongly associated with endurance athlete status and elevated VO2max

Chromosome 11 Risk Allele C Category Fitness & Body Tags Endurance, Cardiovascular, Fitness, Steroid Metabolism, VO2max, Athletic Performance

Elite endurance athletes—those competing in marathons, cycling road races, cross-country skiing, and football matches requiring sustained high-intensity output for 90+ minutes—often share a common genetic signature. Among the most significant is rs1052373 in the MYBPC3 gene, which encodes cardiac myosin-binding...

rs1054564 3'UTR variant that controls GDF15 expression via microRNA regulation — C allele raises baseline GDF15 (metabolic and atherosclerosis risk); G allele lowers it (increased pregnancy nausea sensitivity)

Chromosome 19 Risk Allele C Category Endometriosis & Uterine Health Tags Fertility, Reproductive Health, Women's Health, Metabolic, Inflammation, Cardiovascular

Growth Differentiation Factor 15 (GDF15) is perhaps the most dramatic hormone you've never heard of. Outside pregnancy its circulating levels sit quietly in the low hundreds of picograms per millilitre. During the first trimester, largely driven by the feto-placental unit, they surge 10- to...

rs1059369 GDF15 signal-peptide missense variant that tags a haplotype influencing circulating GDF15 levels — a stress-responsive cytokine driving appetite suppression, nausea, and cardiometabolic stress signaling via the brainstem GFRAL receptor

Chromosome 19 Risk Allele A Category Fat Storage & Energy Tags Growth Factors, Appetite, Cardiovascular, Metabolic Health, Biomarkers

GDF15, once called macrophage inhibitory cytokine-1 or MIC-1(https://pubmed.ncbi.nlm.nih.gov/35916366/), is one of the most versatile stress signals in human biology. Produced at low levels by most organs under normal conditions, it surges in response to cellular injury, metabolic overload, inflammation, pregnancy,...

rs1061170 Strongly increases risk of age-related macular degeneration through impaired complement regulation on retinal cells and drusen formation

Chromosome 1 Risk Allele C Category Skin & Eyes Tags Eye Health, Inflammation, Cardiovascular, Aging, Smoking Interaction, Complement System, Age-Related Macular Degeneration

The CFH Y402H variant (also called Tyr402His) is the single most important genetic contributor to age-related macular degeneration(https://pubmed.ncbi.nlm.nih.gov/16849663/), a progressive disease that destroys the sharp central vision needed for reading and driving. Complement Factor H is a negative regulator of...