Research — GeneOps

rs72552297 Frameshift deletion in the OTC gene that eliminates ornithine transcarbamylase activity; causes severe neonatal hyperammonemia in hemizygous males and variable hyperammonemia in heterozygous females, the most common urea cycle disorder

Chromosome X Risk Allele D Category Metabolic Enzymes & Rare Disorders Tags Carrier Status, Genetic Counseling, Congenital, Metabolic, Micronutrients, Urea Cycle

Every gram of dietary protein that you digest releases nitrogen — and nitrogen, left to accumulate, becomes ammonia, one of the brain's most potent toxins. The liver normally converts this ammonia into harmless urea through the urea cycle, a six-step reaction whose gatekeeper is ornithine transcarbamylase (OTC)....

rs7907606 Intergenic variant near STN1 (telomere maintenance) and SLK (cytoskeletal kinase) associated with uterine fibroid risk in multiple GWAS

Chromosome 10 Risk Allele G Category Endometriosis & Uterine Health Tags Reproductive Health, Fertility, Hormones, Uterine Health

Uterine fibroids (leiomyomas) are benign smooth muscle tumors of the uterus that affect up to 70–80% of women by age 50, causing heavy menstrual bleeding, pelvic pain, and in some cases impaired fertility. Their growth is driven by complex interactions between hormones, genomic instability, and abnormal cell...

rs9807989 Upstream regulatory variant of IL18R1 on chromosome 2q12; the T risk allele increases IL-18 receptor expression and Th1/NK inflammatory signaling, raising susceptibility to COPD and linking to the broader IL1RL1/IL18RAP autoimmune-inflammation locus

Chromosome 2 Risk Allele T Category TNF, NF-kB & Inflammatory Cytokines Tags Autoimmune, Inflammation, Innate Immunity, Immune Response, IBD, Asthma

The chromosome 2q12 region is one of the most densely connected immune susceptibility loci in the human genome. Packed into a span of less than 300 kilobases are several interleukin-1 receptor family members — IL1RL1 (encoding the IL-33 receptor ST2), IL18R1, and IL18RAP — all of which form a tightly co-regulated...

rs17699436 Intergenic variant 5 kb downstream of TBX21 (encoding the T-bet transcription factor) within the TBX21/OSBPL7 intergenic region; the G allele is associated with systemic sclerosis susceptibility and is thought to tag regulatory variation affecting the TBX21-IFNG transcriptional axis governing Th1 immune polarization.

Chromosome 17 Risk Allele G Category Allergy & Atopic Disease Tags T-Cell Regulation, Autoimmune, Inflammation, Immune Function, Asthma, Immune Response

Every naïve T cell faces a binary decision when it encounters an antigen: become a Th1 fighter that floods tissue with interferon-gamma (IFN-gamma) to combat intracellular pathogens, or become a Th2 helper that drives IgE and eosinophil-based responses against parasites and allergens. The master switch for the Th1...

rs1800693 Splice-region variant in TNFR1 that generates a soluble Δ6 isoform mimicking anti-TNF drugs, conferring MS risk and explaining why TNF blockers worsen demyelinating disease

Chromosome 12 Risk Allele C Category Neurology & Cognition Tags Immune & Autoimmune, Inflammation, Drug Metabolism, Anti-TNF Biologics, Neuroinflammation, Autoimmune, Immune & Gut, Multiple Sclerosis

The TNFRSF1A gene encodes TNF receptor 1 (TNFR1)(https://pubmed.ncbi.nlm.nih.gov/22801493/), a central mediator of inflammation and immune defense. When TNF-alpha binds TNFR1, it can trigger apoptosis, pro-inflammatory gene activation, or cell survival depending on context. In the central nervous system, TNF...

rs1801181 A synonymous variant in CBS affecting homocysteine metabolism and associated with modest changes in transsulfuration pathway activity

Chromosome 21 Risk Allele A Category Methylation & Detox Tags Methylation, Homocysteine, B Vitamins, Cardiovascular, Inflammation

The CBS gene encodes cystathionine beta-synthase, a pivotal enzyme that sits at the crossroads of homocysteine metabolism. CBS catalyzes the first step of the transsulfuration pathway, converting homocysteine(https://pubmed.ncbi.nlm.nih.gov/24651765/) and serine into cystathionine, which is then further metabolized...

rs193922485 Rare HNF1B splice-region intronic variant of uncertain significance, found near exon 9 of the HNF1B gene and submitted to ClinVar in the context of renal cysts and diabetes syndrome (MODY5 / HNF1B-related disease)

Chromosome 17 Risk Allele T Category Blood Sugar & Diabetes Tags Diabetes, Kidney Disease, Metabolic Health, Genetic Counseling, Carrier Status, Renal Function

The HNF1B gene (hepatocyte nuclear factor 1-beta) encodes a transcription factor that directs the embryonic development of the kidneys, pancreas, liver, urogenital tract, parathyroid, and parts of the brain. Unlike single-organ transcription factors, HNF1β is a master regulator whose influence spans multiple organ...

rs2231142 Reduces ABCG2 transporter function affecting rosuvastatin levels and uric acid excretion, increasing risk for statin side effects and gout

Chromosome 4 Risk Allele T Category Pharmacogenomics Tags Drug Metabolism, Statins, Cardiovascular, Gout

ABCG2 encodes breast cancer resistance protein (BCRP), an efflux transporter that pumps drugs and metabolites out of cells. ABCG2 is expressed in the apical membrane of kidney proximal tubule cells and intestinal epithelium , where it mediates excretion of uric acid, rosuvastatin, and other substrates. The Q141K...

rs2287161 Cryptochrome 1 circadian gene variant influencing glucose metabolism, sleep timing, mood regulation, and metabolic responses to diet

Chromosome 12 Risk Allele G Category Hormones & Sleep Tags Circadian, Sleep, Chronotype, Metabolism, Insulin, Mood, Depression, Cardiovascular, Obesity, Diet

Cryptochrome 1 (CRY1) is one of the core circadian clock genes that governs the 24-hour rhythms of nearly every cell in your body. Unlike the better-known CLOCK(https://www.genecards.org/cgi-bin/carddisp.pl?gene=CLOCK) and PER genes(https://www.genecards.org/cgi-bin/carddisp.pl?gene=PER2), CRY1 serves a dual role:...

rs2651899 Intronic variant in the master regulator of brown/beige fat differentiation, GWAS-validated for migraine risk and linked to impaired thermogenesis and blood pressure regulation

Chromosome 1 Risk Allele C Category Fat Storage & Energy Tags Fat Metabolism, Thermogenesis, Cardiovascular, Blood Pressure, B Vitamins, Obesity

PRDM16 (PR/SET Domain 16) is best known as the master transcription factor that drives brown and beige fat cell differentiation — the type of fat that burns calories to produce heat rather than storing them. But a landmark genome-wide association study unexpectedly placed this metabolic gene at the center of...