Research — GeneOps

rs1800588 Promoter variant that reduces hepatic lipase activity, raising HDL-C levels but shifting to larger, less protective HDL particles with a genotype-specific dietary fat response

Chromosome 15 Risk Allele T Category Atherogenic Lipoproteins Tags Cholesterol, Fat Metabolism, Cardiovascular, Triglycerides, Lipid Metabolism

Hepatic lipase (HL) is the enzyme that finishes the job lipoprotein lipase starts. After LPL strips triglycerides from VLDL particles in muscle and fat, remnant IDL and HDL2 particles arrive at the liver surface where HL hydrolyzes their remaining triglycerides and phospholipids. This remodeling converts buoyant,...

rs1800591 Promoter-region variant in MTTP that reduces hepatic MTTP transcription; the G allele (common) is associated with lower MTTP expression, impaired VLDL secretion, and increased hepatic triglyceride accumulation

Chromosome 4 Risk Allele G Category Liver Fat Tags Liver Health, Fat Metabolism, Triglycerides, Lipid Metabolism, Metabolic, Cardiovascular

Your liver continuously performs a balancing act: synthesize and receive fats, then package and ship them out as VLDL particles(https://pubmed.ncbi.nlm.nih.gov/15094225/). The enzyme that loads triglycerides into those outbound VLDL packages is MTTP — microsomal triglyceride transfer...

rs1800734 Promoter variant in the MLH1 DNA mismatch repair gene that reduces transcriptional activity and predisposes to promoter hypermethylation, increasing colorectal cancer risk through microsatellite instability

Chromosome 3 Risk Allele A Category Cancer Risk Tags Cancer Risk, Mismatch Repair, Colorectal Cancer, Cancer Screening, DNA Repair

The MLH1 gene encodes a critical component of the DNA mismatch repair (MMR) system(), the cell's proofreading machinery that corrects errors during DNA replication. When MMR fails, replication errors accumulate — especially in microsatellites(), producing a signature called microsatellite instability (MSI) that...

rs1805362 Missense variant in MRE11 (p.Met698Val, T>C on plus strand) at a poorly conserved position outside known nuclease or RAD50-interaction domains; classified benign by multiple ClinVar submitters, but MRE11 is a core component of the MRN complex (MRE11-RAD50-NBS1) that initiates homologous recombination repair of DNA double-strand breaks — including in meiotic cells, where MRN is required for crossover formation and spermatogenic integrity

Chromosome 11 Risk Allele C Category Gamete Quality & DNA Repair Tags DNA Repair, Double-Strand Break Repair, Genomic Stability, Fertility, Sperm Quality, Cancer Risk

MRE11 (double strand break repair nuclease) is the enzymatic core of the MRN complex(https://pubmed.ncbi.nlm.nih.gov/11988766/), the three-protein assembly that acts as the cell's primary sensor and first responder to DNA double-strand breaks (DSBs)(https://pubmed.ncbi.nlm.nih.gov/20655309/). MRE11 contributes two...

rs2060793 Upstream regulatory variant in CYP2R1 that reduces hepatic 25-hydroxylase expression, lowering the conversion of vitamin D3 to 25(OH)D and predisposing carriers to vitamin D insufficiency

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

Every unit of vitamin D you absorb from sunlight or supplements must pass through a critical gating step in the liver before it can circulate or act on your cells. The enzyme CYP2R1 (cytochrome P450 family 2 subfamily R member 1()) performs this conversion, and the amount of CYP2R1 enzyme your liver produces is...

rs2200733 Intergenic variant at chromosome 4q25 near PITX2 — the strongest GWAS signal for atrial fibrillation susceptibility; the T allele reduces PITX2 expression in the left atrium, impairing suppression of a pacemaker program that normally prevents the left atrium from generating ectopic impulses

Chromosome 4 Risk Allele T Category Arrhythmia & Heart Rhythm Tags Arrhythmia, Heart Disease, Cardiovascular, Ancestry-Specific, Thrombosis, Thrombophilia

Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia, affecting over 37 million people worldwide and carrying a fivefold increased risk of ischaemic stroke. The variant rs2200733 at chromosome 4q25 is the strongest single GWAS signal ever found for AF susceptibility — discovered in the landmark...

rs2235373 Intronic IRF6 variant associated with non-syndromic cleft lip with or without cleft palate susceptibility in multiple populations, particularly East Asian ancestry groups

Chromosome 1 Risk Allele A Category Dental & Oral Health Tags Dental & Oral Health, Congenital, Craniofacial, Inflammation, Immune System

During the sixth to ninth week of human embryonic development, precisely timed signals from a handful of transcription factors orchestrate the fusion of the facial prominences that will become the lip and palate. IRF6 — interferon regulatory factor 6(https://pubmed.ncbi.nlm.nih.gov/17438386/) — sits near the top of...

rs104894008 Pathogenic glucokinase missense variant that nearly abolishes enzyme activity, causing autosomal dominant maturity-onset diabetes of the young type 2 (MODY2) in heterozygous carriers and permanent neonatal diabetes when homozygous

Chromosome 7 Risk Allele T Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Metabolic, Genetic Counseling, Carrier Status, Energy Metabolism

Every time you eat, your pancreatic beta cells must sense the rising tide of glucose and respond by secreting exactly the right amount of insulin. This sensing is performed almost entirely by a single enzyme: glucokinase (GCK), often called the glucose sensor of the pancreas...

rs104894143 Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxylase/17,20-lyase activity; homozygotes develop 17α-hydroxylase deficiency (CAH) with absent sex steroids, primary amenorrhea, and mineralocorticoid excess; heterozygous carriers have subclinical steroid biosynthetic abnormalities and should undergo endocrinology evaluation

Chromosome 10 Risk Allele G Category Reproductive Hormones Tags Fertility, Reproductive Health, Steroid Hormones, Hormones, Congenital, Genetic Counseling

CYP17A1 encodes 17α-hydroxylase/17,20-lyase(https://pubmed.ncbi.nlm.nih.gov/14715827/). Without this enzyme, the steroid pathway cannot produce cortisol, sex hormones (androgens and estrogens), or DHEA. Instead, precursors accumulate upstream — particularly...

rs104894396 Stop-gain mutation eliminating connexin 26 function; the most common GJB2 deafness allele in South Asian populations and the ancestral founder mutation carried into European Romani communities

Chromosome 13 Risk Allele T Category Neurology & Cognition Tags Hearing Loss, Sensorineural, Congenital, Carrier Status, Reproductive Health

The GJB2 gene encodes connexin 26(https://www.ncbi.nlm.nih.gov/gene/2706), the most common cause of hereditary non-syndromic hearing loss worldwide. While the 35delG deletion dominates European deaf populations, a different loss-of-function variant — W24X — is the principal GJB2 deafness allele across South Asia and...