Research — GeneOps

rs6974491 Intronic ELMO1 variant acting as an eQTL that modulates engulfment and cell motility protein expression in thymic and peripheral immune cells, with GWAS associations with celiac disease, primary biliary cholangitis, and inflammatory bowel disease

Chromosome 7 Risk Allele A Category IBD & Mucosal Immunity Tags Autoimmune, Celiac Disease, Inflammatory Bowel Disease, Gut Health, Immune Function, Apoptosis

Your immune system is not just a fighting force — it is also a meticulous cleanup operation. Dead and damaged cells must be recognized and engulfed efficiently to prevent their contents from triggering inflammation. ELMO1 (Engulfment and Cell Motility 1) is a central coordinator of this process, working within the...

rs7359397 Regulatory CpG-SNP downstream of SH2B1 that reduces gene expression via allele-specific methylation, impairing leptin and insulin signaling and increasing NAFLD severity and insulin resistance risk

Chromosome 16 Risk Allele T Category Appetite & Obesity Tags Leptin, Obesity, Insulin Resistance, Liver Disease, Fat Metabolism, Nutrition & Metabolism

While rs7498665 (SH2B1 Thr484Ala) alters the structure of the SH2B1 protein, rs7359397 acts at an earlier level — it controls how much SH2B1 protein the cell makes in the first place. Located approximately 500 base pairs downstream of SH2B1 on chromosome 16, this variant sits within a CpG dinucleotide(). The T...

rs74315294 Missense variant in CPT2 that destabilizes the carnitine palmitoyltransferase 2 enzyme, impairing mitochondrial uptake of long-chain fatty acids and causing recurrent exercise- and fever-induced rhabdomyolysis in homozygotes; the most common cause of adult myopathic CPT II deficiency in Europeans.

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

Your muscles have two main fuels: carbohydrates (glucose stored as glycogen) and fats (fatty acids stored in adipose tissue). During moderate or prolonged exercise — and especially during fasting — muscles shift toward fat as their primary energy source. To burn long-chain fatty acids (the dominant fat in your diet...

rs7986407 Intronic variant in FOXO1, a pro-apoptotic transcription factor whose suppression by the AKT/progestin pathway promotes uterine fibroid cell survival; the G allele is associated with elevated uterine leiomyoma risk in multiple GWAS, while the A allele associates with later age at natural menopause.

Chromosome 13 Risk Allele G Category Endometriosis & Uterine Health Tags Uterine Fibroids, Fertility, Reproductive Health, Longevity, Apoptosis

Uterine fibroids (leiomyomata) affect up to 70% of women by age 50 and are the leading indication for hysterectomy worldwide. Their growth depends on a fundamental imbalance: fibroid smooth muscle cells proliferate but resist dying. FOXO1 — forkhead box protein O1(https://www.omim.org/entry/136533) — is a central...

rs867186 Missense variant in the endothelial protein C receptor gene that increases EPCR shedding, paradoxically raising plasma protein C levels while reducing endothelial anticoagulant activity and increasing VTE risk

Chromosome 20 Risk Allele G Category Von Willebrand & Anticoagulant Proteins Tags Thrombophilia, Blood Clotting, Cardiovascular, Endothelial Health, Inflammation

The endothelial protein C receptor (EPCR, encoded by the PROCR gene on chromosome 20) is a transmembrane glycoprotein on vascular endothelial cells that serves as the essential docking station for protein C activation(https://pubmed.ncbi.nlm.nih.gov/17849044/). Once activated, protein C (as APC — activated protein...

rs1800925 Promoter variant that selectively increases IL-13 expression in Th2 lymphocytes, amplifying the central Th2 cytokine driving asthma, atopic dermatitis, elevated total IgE, and mucus hypersecretion; the T allele creates a Yin-Yang 1 binding site that attenuates STAT6-mediated repression of IL-13 transcription

Chromosome 5 Risk Allele T Category Allergy & Atopic Disease Tags Asthma, Inflammation, Immune System, Skin Health, Lung Health

IL-13(https://www.ncbi.nlm.nih.gov/gene/3596) is one of two master regulators of allergic disease — the other being IL-4. While IL-4 orchestrates the initial Th2 commitment and IgE class switching, IL-13 executes the downstream tissue effects: airway smooth muscle contraction, mucus hypersecretion by goblet cells,...

rs1801280 Phase II detoxification - acetylation of aromatic amines and certain medications

Chromosome 8 Risk Allele C Category Methylation & Detox Tags Detoxification, Acetylation, Drug Metabolism, Phase II, Xenobiotics

N-acetyltransferase 2 (NAT2) is a Phase II | Phase II detoxification conjugates reactive intermediates from Phase I with small molecules to make them water-soluble and excretable detoxification enzyme that adds an acetyl group to aromatic amines and hydrazines, making them water-soluble so your body can excrete...

rs181949335 Hypomorphic missense variant in the TMPRSS3 serine protease catalytic domain; the most common TMPRSS3 pathogenic allele worldwide, causing DFNB8 progressive or DFNB10 congenital hearing loss depending on the second allele; a founder mutation in Korean, Chinese, Dutch, and German populations

Chromosome 21 Risk Allele T Category Neurology & Cognition Tags Hearing Loss, Sensorineural, Carrier Status, Congenital

The TMPRSS3 gene encodes a type II transmembrane serine protease(https://pubmed.ncbi.nlm.nih.gov/37331337/) essential for the survival of cochlear hair cells at the onset of hearing. Of the more than 87 documented TMPRSS3 pathogenic variants, the p.Ala306Thr missense change caused by c.916GA is the single most...

rs193929374 Pathogenic missense variant in glucokinase that raises the glucose set-point for insulin secretion, causing mild stable fasting hyperglycemia (heterozygous MODY2) or severe permanent neonatal diabetes (homozygous)

Chromosome 7 Risk Allele A Category Blood Sugar & Diabetes Tags MODY, Diabetes, Fasting Glucose, Pancreatic Beta Cell, Insulin, Genetic Counseling

Inside every pancreatic beta cell, a single enzyme acts as the body's glucose sensor: glucokinase(https://pubmed.ncbi.nlm.nih.gov/19790256/). By catalyzing the first committed step of glycolysis — converting glucose to glucose-6-phosphate — glucokinase determines the blood glucose concentration at which insulin...

rs2242480 Intronic variant in CYP3A4 intron 10 that upregulates a suppressive lncRNA, reducing CYP3A4 and CYP3A5 expression by ~30%; affects dosing of tacrolimus, sirolimus, statins, and psychiatric drugs

Chromosome 7 Risk Allele T Category Pharmacogenomics Tags Drug Metabolism, Immunosuppressants, Statins, Pharmacogenomics, Transplant, Cardiovascular

CYP3A4 is the most versatile drug-metabolizing enzyme in the human body, responsible for processing approximately 50% of all prescription medications — from transplant immunosuppressants and statins to psychiatric drugs and opioids. The 1G variant (rs2242480) sits in intron 10 of CYP3A4, a seemingly innocuous...