Research — GeneOps

rs33912345 Affects optic nerve development and retinal ganglion cell survival, strongly associated with primary open-angle glaucoma risk

Chromosome 14 Risk Allele C Category Skin & Eyes Tags Eye Health, Glaucoma, Cardiovascular, Neurodegeneration

SIX6 (sine oculis homeobox homolog 6) is a transcription factor(https://www.ncbi.nlm.nih.gov/gene/4990) critical for eye development, particularly the formation of the retina(https://www.ncbi.nlm.nih.gov/books/NBK11556/), optic nerve, and pituitary gland during embryonic development. While most people think of...

rs3734637 A 3'UTR regulatory variant in HEY2, a Notch signaling transcription factor expressed in pregranulosa cells during the critical neonatal window of primordial follicle assembly; the T allele is derived and globally common, and may tag elevated HEY2 expression relative to the G reference; GG homozygotes represent the baseline HEY2 signaling state.

Chromosome 6 Risk Allele G Category Gamete Quality & DNA Repair Tags Fertility, Ovarian Reserve, Reproductive Health, Notch Signaling, Aging, DNA Repair

Every egg a woman will ever ovulate was set aside before she was born. Between embryonic day 13 and the first weeks of postnatal life, primordial oocytes cluster in germ cell nests that must be broken apart and individually wrapped in flattened granulosa cells to form the primordial follicles that constitute the...

rs3738919 Intronic ITGAV variant associated with rheumatoid arthritis susceptibility in a family-based European study, though larger meta-analyses have not replicated the association; may tag a regulatory haplotype affecting integrin-mediated immune cell trafficking and synovial angiogenesis

Chromosome 2 Risk Allele C Category B-Cell Immunity & Antibody-Mediated Disease Tags Autoimmune, Rheumatoid Arthritis, Angiogenesis, Inflammation, Bone & Joint

Every joint in your body is partially sustained by a microscopic scaffolding of blood vessels. In rheumatoid arthritis, that scaffolding becomes a liability: new vessels grow into the synovial membrane(https://pubmed.ncbi.nlm.nih.gov/18001496/), feeding the invasion of immune cells and accelerating joint...

rs3825016 Synonymous coding variant in the URAT1 renal urate transporter; the C allele is associated with increased urate reabsorption and 27% higher odds of hyperuricemia, completing the URAT1 genetic panel alongside rs505802 (promoter) and rs121907892 (W258X)

Chromosome 11 Risk Allele C Category Uric Acid & Kidney Function Tags Uric Acid, Gout, Kidney Function, Cardiovascular, Renal Function

Every molecule of uric acid your body produces eventually reaches the kidney, where it must run a gauntlet of transporters that shuttle it between the blood and the urine. The most important of these is URAT1(https://pubmed.ncbi.nlm.nih.gov/29352852/). The rs3825016 variant sits inside the SLC22A12 coding sequence...

rs3865418 Intronic NEDD4L variant that tags reduced ubiquitin-ligase activity toward the epithelial sodium channel, increasing renal sodium reabsorption and raising diastolic blood pressure

Chromosome 18 Risk Allele T Category Blood Pressure & Hypertension Tags Blood Pressure, Hypertension, Kidney, Salt Sensitivity, Cardiovascular, Renal Function

Every heartbeat depends on the right amount of sodium in the blood. The kidneys are the master regulators of that balance, and NEDD4L is one of their most critical molecular gatekeepers. This gene encodes an E3 ubiquitin ligase(https://pubmed.ncbi.nlm.nih.gov/25602517/). Its primary target in the kidney collecting...

rs422187 Intronic variant in the Factor IX gene in near-perfect linkage disequilibrium with the rs6048 missense variant; the C allele tags the same modestly protective haplotype for deep vein thrombosis identified in the Bezemer 2009 GWAS

Chromosome X Risk Allele A Category Coagulation & Clotting Factors Tags Blood Clotting, Thrombosis, Thrombophilia, Cardiovascular, Venous Health

Coagulation factor IX is the gatekeeper of the intrinsic clotting pathway. Synthesised in the liver and secreted into the circulation as an inactive zymogen, it is activated by factor XIa to form the tenase complex(https://pubmed.ncbi.nlm.nih.gov/19286883/). Severe loss-of-function mutations in F9 cause haemophilia...

rs5174 Missense variant in LRP8 (ApoER2) replacing arginine with glutamine at position 952; the Q allele contributes to the TACGC risk haplotype linked to early-onset familial myocardial infarction, elevated triglycerides, and altered platelet reactivity via impaired apolipoprotein E signaling

Chromosome 1 Risk Allele T Category Atherogenic Lipoproteins Tags Heart Disease, Cardiovascular, Atherosclerosis, LDL Cholesterol, Triglycerides, Thrombosis, Thrombophilia

Your heart's arteries are constantly cleared of lipoprotein debris by a network of cell-surface receptors. One of these, LRP8 (also called ApoER2)(https://pubmed.ncbi.nlm.nih.gov/17847002/), does double duty: it clears atherogenic particles from the bloodstream and mediates a protective signaling cascade in...

rs555607708 Frameshift deletion in the CHEK2 checkpoint kinase that abolishes kinase activity, conferring moderate-penetrance susceptibility to breast, colorectal, and prostate cancer

Chromosome 22 Risk Allele D Category Cancer Risk Tags Cancer Risk, DNA Repair, Double-Strand Break Repair, Cancer Screening, Breast Cancer, Colorectal Cancer

Every time your cells divide, they face a dangerous moment: the entire genome must be copied without error, and any double-strand breaks in DNA must be repaired before the cell commits to division. CHEK2 (checkpoint kinase 2) is one of the critical sentries in this process. When the upstream kinase ATM() detects a...

rs57875989 Coding VNTR in exon 18 of the circadian clock gene PER3; 4-repeat vs 5-repeat alleles alter chronotype, cardiac autonomic balance, and circadian patterning of cardiovascular events

Chromosome 1 Risk Allele 5 Category Arrhythmia & Heart Rhythm Tags Circadian, Chronotype, Cardiovascular, Arrhythmia, Sleep, Heart Disease

Every cell in your body carries a molecular clock, and the PERIOD3 (PER3) protein is one of its core timekeepers. PER3 drives the feedback loop that determines when you wake, when inflammation peaks, when platelets clump most aggressively, and when the heart's electrical system is most vulnerable to arrhythmia. A...

rs613084 Intronic variant that influences CPT1A expression and fatty acid oxidation capacity, with effects on HDL cholesterol and desaturase enzyme activity

Chromosome 11 Risk Allele A Category Liver Fat Tags Fat Metabolism, Lipid Metabolism, Cardiovascular, Mitochondria, Triglycerides

Your liver burns fat by routing long-chain fatty acids into mitochondria — the cellular power plants. But fatty acids can't cross the inner mitochondrial membrane on their own. They need a molecular escort. That escort is the carnitine shuttle(), and the enzyme that initiates it — carnitine palmitoyltransferase 1A...