Research — GeneOps

rs11555236 Intronic regulatory variant near the SIRT3 VNTR enhancer — the A allele increases SIRT3 expression and is linked to longevity in women

Chromosome 11 Risk Allele C Category Longevity & Aging Tags Longevity, Aging, Mitochondria, Oxidative Stress, Fat Metabolism, Cardiovascular

Your mitochondria are not just energy factories — they are also the primary site of cellular aging. Every time they burn fuel, they generate reactive oxygen species | Reactive oxygen species (ROS) are chemically reactive molecules containing oxygen, such as superoxide and hydrogen peroxide, that damage DNA,...

rs121434281 Rare pathogenic missense variant in the ACADM gene (p.Ser245Leu) causing medium-chain acyl-CoA dehydrogenase (MCAD) deficiency when inherited in biallelic form — resulting in impaired oxidation of medium-chain fatty acids and risk of hypoketotic hypoglycemia during fasting or illness

Chromosome 1 Risk Allele T Category Metabolic Enzymes & Rare Disorders Tags Fat Metabolism, Energy Metabolism, Carrier Status, Genetic Counseling, Metabolic, Mitochondria

Every cell in your body can burn glucose for energy, but most tissues — especially the heart, skeletal muscle, and liver — rely heavily on fatty acids as a fuel source during fasting, exercise, and illness. Medium-chain fatty acids (carbon chain lengths C6–C12) are processed by a dedicated mitochondrial enzyme...

rs121434293 Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing acrodermatitis enteropathica in homozygotes and obligate carrier status in heterozygotes

Chromosome 8 Risk Allele G Category Iron & Mineral Transport Tags Zinc, Minerals, Micronutrients, Carrier Status, Congenital, Genetic Counseling

The body cannot make zinc — every microgram enters through the gut, and the ZIP4 transporter (SLC39A4)(https://pubmed.ncbi.nlm.nih.gov/12068297/) is the molecular gate that makes that absorption possible. When both copies of SLC39A4 carry loss-of-function mutations, the gate fails, and zinc deficiency becomes severe...

rs121918383 Nonsense mutation in APOB creating a premature stop codon at position 1333, truncating apolipoprotein B-100 to ~30% of its normal length and causing familial hypobetalipoproteinemia with very low LDL cholesterol; pathogenic for FHBL

Chromosome 2 Risk Allele A Category Cholesterol & Lipoproteins Tags Fat Metabolism, Cholesterol, Cardiovascular, Liver Health, LDL Cholesterol, Carrier Status

Apolipoprotein B-100 (apoB-100) is the structural backbone of every LDL particle(). Without apoB-100, the liver cannot package and export VLDL — and without VLDL, there is no LDL. The rs121918383 A allele introduces a premature stop codon at position 1333 of the protein, producing a severely truncated apoB fragment...

rs121918475 Pathogenic nonsense variant in protein S that eliminates the anticoagulant cofactor through a premature stop codon, causing autosomal dominant hereditary protein S deficiency and a markedly elevated lifetime risk of venous thromboembolism

Chromosome 3 Risk Allele A Category Von Willebrand & Anticoagulant Proteins Tags Thrombophilia, Blood Clotting, Cardiovascular, Thrombosis, Blood Thinners, Women's Health

Blood clots when you need them to; the rest of the time, a network of natural anticoagulants keeps coagulation in check. Protein S — encoded by the PROS1 gene — is one of those brakes. It acts as a cofactor for activated protein C (APC)(https://www.ncbi.nlm.nih.gov/gene/5627), the enzyme that forms blood clots....

rs12252 Splice-region synonymous variant in the innate antiviral gene IFITM3; the G allele (C on coding strand) reduces antiviral protein activity and is strongly associated with severe influenza, COVID-19, and other enveloped virus infections.

Chromosome 11 Risk Allele G Category Innate Immunity & Infection Defense Tags Immune & Antiviral, Innate Immunity, Interferon, Respiratory Infections, Infection Risk, Viral Clearance

Every cell in your body has a first line of defence against viruses before the adaptive immune system has time to respond. IFITM3(https://pubmed.ncbi.nlm.nih.gov/22446628/) is one of the most potent of these innate antiviral sentinels. When interferon signals arrive (as they do within hours of viral exposure),...

rs12470652 Missense variant in the LH/hCG receptor producing a gain-of-function increase in receptor sensitivity, influencing ovarian stimulation response, IVF outcomes, and gonadotropin-dependent signaling

Chromosome 2 Risk Allele C Category Fertility & Ovarian Function Tags Reproductive Health, Hormones, Fertility, IVF, Ovarian Reserve, Gonadotropins

The luteinizing hormone/choriogonadotropin receptor (LHCGR) is the gateway through which LH and hCG direct ovulation, corpus luteum function, and ovarian steroidogenesis. The Asn291Ser variant — a single amino acid change at position 291 from asparagine (N) to serine (S) — lies in exon 10, encoding the extracellular...

rs12510549 Intergenic variant in the SLC2A9 urate-transporter locus — the C allele is associated with lower serum uric acid levels and reduced gout risk

Chromosome 4 Risk Allele T Category Uric Acid & Kidney Function Tags Uric Acid, Gout, Kidney Function, Renal Function, Diet

Uric acid() is a Jekyll-and-Hyde molecule. At normal concentrations it acts as an antioxidant, but when levels climb — whether through overproduction from purine-rich foods, alcohol, or fructose, or through impaired renal excretion — urate crystals precipitate in joints, causing the excruciating inflammation of...

rs12624433 Intronic variant in SLC12A5 reducing KCC2 potassium-chloride cotransporter function, shifting GABA signaling from inhibitory to excitatory and increasing risk for depression and anxiety

Chromosome 20 Risk Allele A Category Mood & Behavior Tags Mood, Neurotransmitters, Anxiety, Depression, Mental Health, Stress Response

Deep in every neuron, a molecular pump works continuously to push chloride ions out of the cell. This pump — KCC2(https://pubmed.ncbi.nlm.nih.gov/31240228/) — is encoded by SLC12A5 and is arguably one of the most important proteins for psychological calm you've never heard of. The rs12624433 variant in an intronic...

rs12700667 Intergenic GWAS locus upstream of homeobox genes HOXA10 and HOXA11 that may influence their regulation; carrying the A allele is associated with increased risk of endometriosis, particularly moderate-to-severe disease

Chromosome 7 Risk Allele A Category Endometriosis & Uterine Health Tags Endometriosis, Reproductive Health, Fertility, Inflammation, Hormones, Women's Health

Endometriosis — in which tissue resembling the uterine lining grows outside the uterus — affects an estimated 10% of women of reproductive age and accounts for a significant share of chronic pelvic pain and infertility. Despite its prevalence, most cases take 4 to 11 years to...