Research — GeneOps

rs104894085 Nonsense mutation in STAR that abolishes steroidogenic acute regulatory protein function; the most prevalent allele causing lipoid congenital adrenal hyperplasia, accounting for approximately 70% of cases globally — homozygotes have near-complete loss of all steroid hormone synthesis

Chromosome 8 Risk Allele A Category Reproductive Hormones Tags Reproductive Health, Hormones, Steroid Hormones, Steroid Metabolism, Cortisol, Congenital

Every steroid hormone your body makes — cortisol, aldosterone, testosterone, estrogen, progesterone — begins at the same bottleneck: getting cholesterol across the outer mitochondrial membrane into the matrix, where the first enzyme of the steroidogenic cascade converts it to pregnenolone. The steroidogenic acute...

rs10499194 Intergenic regulatory variant at 6q23 near TNFAIP3 whose T allele is protective against rheumatoid arthritis in Europeans, representing the second independent RA signal at this locus alongside risk variant rs6920220

Chromosome 6 Risk Allele C Category TNF, NF-kB & Inflammatory Cytokines Tags Autoimmune, Inflammation, Rheumatoid Arthritis, Immune & Gut, Lupus, Anti-TNF Biologics

Six hundred kilobases along chromosome 6, near the TNFAIP3 gene that encodes the A20 protein(https://pubmed.ncbi.nlm.nih.gov/19643665/), lies a cluster of variants with independent and sometimes opposing effects on autoimmune disease risk. rs10499194 is one of two independently associated signals at this 6q23 locus...

rs10509679 Intronic CYP2C9 haplotype tag associated with increased ischemic stroke risk in Asian populations, acting through altered epoxyeicosatrienoic acid (EET) production and impaired cerebrovascular tone regulation

Chromosome 10 Risk Allele A Category Coronary Artery Disease & Atherosclerosis Tags Cerebrovascular, Cardiovascular, Pharmacogenomics, Inflammation, Drug Metabolism

CYP2C9 is best known as the liver enzyme that metabolizes warfarin, ibuprofen, and dozens of other common medications. But CYP2C9 is also an epoxygenase — it converts arachidonic acid(https://pubmed.ncbi.nlm.nih.gov/25388680/) into epoxyeicosatrienoic acids (EETs), a family of lipid mediators that relax blood vessel...

rs10516487 BANK1 scaffold protein missense variant that shifts B-cell receptor signaling toward hyperactivation, increasing risk for systemic lupus erythematosus and other B-cell-driven autoimmune diseases

Chromosome 4 Risk Allele G Category B-Cell Immunity & Antibody-Mediated Disease Tags Autoimmune, Lupus, Immune System, Immune & Gut, Gut Microbiome, B-Cell Signaling

Every time your B cells encounter an antigen, a cascade of molecular events must balance signal amplification against self-tolerance. BANK1 (B-cell scaffold protein with ankyrin repeats 1) sits at the hub of this balance, acting as a scaffold that coordinates calcium...

rs1057516616 Frameshift deletion in coagulation factor XI causing complete loss of the FXI protein; homozygous carriers develop hemophilia C (severe FXI deficiency) with bleeding after surgery and trauma, while heterozygous carriers may have partial deficiency with variable bleeding risk

Chromosome 4 Risk Allele D Category Coagulation & Clotting Factors Tags Blood Clotting, Cardiovascular, Thrombophilia, Carrier Status, Genetic Counseling, Blood Thinners

Coagulation factor XI (FXI) sits at a strategic crossroads in the clotting cascade. It amplifies thrombin generation inside growing clots, keeping fibrin networks stable and protecting them from the body's own clot-dissolving machinery. When the F11 gene is disrupted by a deletion like rs1057516616 (c.2528del), the...

rs10745742 Intronic variant in the histidine-catabolism gene AMDHD1 that influences circulating 25-hydroxyvitamin D levels through a pathway outside classical vitamin D metabolism

Chromosome 12 Risk Allele C Category Metabolic Enzymes & Rare Disorders Tags Vitamin D, Micronutrients, Metabolism, Bone Health, Immune Function

Most genetic variants that affect your circulating vitamin D levels do so through obvious routes: altering UV-driven skin synthesis (DHCR7), speeding or slowing the liver's 25-hydroxylation step (CYP2R1), changing how efficiently vitamin D binds its transport protein in the blood (GC), or controlling how quickly...

rs10766197 Reduces CYP2R1 promoter activity and hepatic 25-hydroxylase expression, lowering circulating 25(OH)D independently of rs10741657

Chromosome 11 Risk Allele A Category Vitamin D Metabolism Tags Vitamin D, Micronutrients, Bone Health, Immune Function, Cardiovascular

Your liver performs the first critical step in making vitamin D biologically useful: converting vitamin D3 (cholecalciferol) from sun exposure or supplements into 25-hydroxyvitamin D() (25(OH)D). This hydroxylation is carried out by the enzyme CYP2R1, encoded by the CYP2R1 gene on chromosome 11p15. The rs10766197...

rs1079128 Deeply intronic SLC2A9 variant at chromosome 4:9,949,597 (GRCh38) within the GLUT9 renal urate transporter locus; the T allele (GRCh38 reference) is common in East Asian populations (~92%) where gout prevalence is highest, while the C allele (~71% in Africans) tags a haplotype associated with more efficient renal urate clearance and lower serum uric acid setpoint

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

The SLC2A9 gene on chromosome 4 encodes GLUT9(https://pubmed.ncbi.nlm.nih.gov/18327257/). The SLC2A9 locus is the single largest genetic determinant of serum uric acid in humans, with multiple independent intronic signals collectively explaining up to 5–6% of urate variance in Europeans. rs1079128 sits deep within...

rs11072566 Common intronic variant at the NRG4 locus; NRG4 is a brown adipose tissue-enriched batokine that suppresses hepatic de novo lipogenesis via ErbB4/STAT5/SREBP-1c signaling; lower NRG4 expression is associated with hepatic steatosis, metabolic syndrome, and impaired lipid metabolism

Chromosome 15 Risk Allele G Category Liver Fat Tags Fat Metabolism, Triglycerides, Insulin, Cardiovascular, Diet

NRG4(https://pubmed.ncbi.nlm.nih.gov/25401691/) is one of the primary secreted factors of brown adipose tissue (BAT) — a specialized fat depot that burns calories to generate heat. Unlike white fat, which stores energy, brown fat communicates with the liver via a class of secreted proteins called batokines. NRG4 is...

rs11277 3'UTR regulatory variant in the primary intestinal zinc efflux transporter, with potential impact on ZnT1 expression and systemic zinc status

Chromosome 1 Risk Allele G Category Iron & Mineral Transport Tags Zinc, Minerals, Micronutrients, Immune Function, Metal Metabolism

Every gram of zinc you absorb from food passes through a molecular bottleneck on the lining of your gut. ZnT1() sits on the basolateral membrane() of enterocytes — the intestinal lining cells — and pumps absorbed zinc into the portal circulation. Without it, zinc accumulates inside cells and fails to reach the...