Research — GeneOps

rs1572312 Long non-coding RNA regulating erythropoiesis, influencing hemoglobin levels and oxygen transport capacity in endurance athletes

Chromosome 1 Risk Allele T Category Fitness & Body Tags Endurance, Fitness, Erythropoiesis, Aerobic Capacity, VO2max, Hypoxia, Exercise Performance

The NFIA-AS2 gene encodes a long non-coding RNA() that regulates the NFIA transcription factor, which plays a crucial role in determining whether hematopoietic stem cells become red blood cells or white blood cells. This SNP, rs1572312, was discovered through a genome-wide association...

rs16847897 Regulatory variant at the TERC locus associated with shorter telomeres and accelerated cellular aging, operating independently of — but overlapping with — the nearby rs12696304 signal

Chromosome 3 Risk Allele C Category Longevity & Aging Tags Telomere Biology, Aging, Longevity, Cardiovascular, Mental Health, Diabetes

Every time a cell divides, its telomeres — the protective caps on chromosome ends — lose a small amount of DNA. Telomerase, the enzyme responsible for rebuilding these caps, depends on two components working in concert: TERT (the protein catalytic subunit) and TERC (the RNA template that specifies the sequence to be...

rs17222842 Intronic ALOX5AP haplotype tag; the common G allele marks the HapB cardiovascular risk haplotype via elevated leukotriene production, while the rare A allele confers partial protection against coronary heart disease and myocardial infarction

Chromosome 13 Risk Allele G Category Vascular Inflammation & Remodeling Tags Inflammation, Cardiovascular, Atherosclerosis, Heart Disease, Cerebrovascular

A genetic variant in the ALOX5AP gene — encoding the 5-lipoxygenase-activating protein (FLAP) — tags a risk haplotype that has been linked to myocardial infarction and stroke across multiple European cohorts. FLAP is the membrane scaffold that enables 5-lipoxygenase (5-LOX) to process arachidonic acid into...

rs174547 Omega-3 fatty acid conversion efficiency - affects ability to make EPA/DHA from plant sources

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

FADS1 (Fatty Acid Desaturase 1) encodes the delta-5 desaturase enzyme that converts short-chain omega-3 fatty acids| ALA (alpha-linolenic acid) is the plant-derived omega-3 found in flax, chia, and walnuts into the longer-chain EPA and DHA| EPA (eicosapentaenoic acid) and DHA (docosahexaenoic acid) are the...

rs17514846 Intronic regulatory variant modulating FURIN expression via allele-specific DNA methylation, associated with coronary artery disease risk and blood pressure through macrophage and endothelial cell mechanisms

Chromosome 15 Risk Allele A Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Inflammation, Blood Pressure, Heart Disease, Atherosclerosis

Every bioactive peptide in your body starts life as an inactive precursor — a pro-protein that must be cleaved into its functional form. FURIN (also called PCSK3(https://pubmed.ncbi.nlm.nih.gov/38481703/)) is one of the most important enzymes responsible for these cuts. Its substrates include pro-BNP and...

rs1800883 Promoter/5' UTR variant in the serotonin 5-HT5A receptor gene affecting receptor expression, linked to schizophrenia susceptibility and executive function

Chromosome 7 Risk Allele G Category Mood & Behavior Tags Serotonin, Neurotransmitters, Mental Health, Cognition, Mood

The serotonin system is one of the brain's most far-reaching neurotransmitter networks, and the 5-HT5A receptor(https://www.genecards.org/cgi-bin/carddisp.pl?gene=HTR5A) encoded by HTR5A is among its most enigmatic members. Located on chromosome 7q36.1, HTR5A encodes a G-protein coupled...

rs1800972 Promoter variant in the beta-defensin 1 gene that reduces constitutive hBD-1 expression, altering mucosal antimicrobial defense and susceptibility to inflammatory and infectious conditions

Chromosome 8 Risk Allele C Category IBD & Mucosal Immunity Tags Innate Immunity, Inflammation, Gut Barrier, IBD, Infection Risk

Every mucosal surface in your body — your gut lining, airways, and mouth — faces a constant barrage of bacteria, fungi, and viruses. The front line of defense is not your adaptive immune system with its antibodies and memory cells. It is an older, faster system: human beta-defensin 1...

rs184660829 Rare intronic variant near a DENND2C splice site associated with an 8-fold increase in type 2 diabetes risk in carriers of European ancestry.

Chromosome 1 Risk Allele C Category Appetite & Obesity Tags Diabetes, Insulin, Energy Metabolism, Metabolic Health, Ancestry-Specific, Pancreatic Beta Cell

Most genetic risk variants for type 2 diabetes (T2D) are common, each nudging risk upward by a small amount. rs184660829 works differently: it is vanishingly rare — found in fewer than 1 in 2,500 people of European ancestry and essentially absent elsewhere — but carries one of the largest odds ratios for T2D yet...

rs187830361 Ultra-rare pathogenic missense variant in the C6 fibronectin domain of cardiac myosin-binding protein C that destabilizes domain folding and causes functional haploinsufficiency, leading to hypertrophic cardiomyopathy with early onset and high penetrance.

Chromosome 11 Risk Allele G Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Genetic Counseling, Carrier Status, Arrhythmia

MYBPC3(https://pubmed.ncbi.nlm.nih.gov/37445689/) is the single most commonly mutated gene in familial hypertrophic cardiomyopathy (HCM), accounting for 40–50% of all genetically explained HCM cases. rs187830361 introduces a tryptophan-to-arginine substitution at codon 792 (p.Trp792Arg), sitting squarely in the C6...

rs1971256 Intronic variant in CCDC170 at the 6q25.1 estrogen-signaling locus, co-regulated with ESR1; the C allele increases endometriosis risk (OR 1.09) and has been independently replicated across European, East Asian, and Taiwanese-Han populations

Chromosome 6 Risk Allele C Category Endometriosis & Uterine Health Tags Endometriosis, Estrogen, Fertility, Reproductive Health, Women's Health, Hormones

The chromosome 6q25.1 region is one of the most replicated genetic risk zones for endometriosis. It harbors the estrogen receptor alpha gene (ESR1) and, just upstream, CCDC170 (Coiled-Coil Domain Containing 170) — a gene that encodes a Golgi-microtubule organizing protein. Variants across this region have been...