Research — GeneOps

rs914232 Regulatory variant that reduces reduced folate carrier protein expression, impairing folate uptake into cells

Chromosome 21 Risk Allele C Category Methylation & Detox Tags Methylation, Folate, B Vitamins, Homocysteine, Cardiovascular

Before folate — whether from food or supplements — can do its work inside your cells, it has to get through the cell membrane. That job belongs to SLC19A1, also called the reduced folate carrier (RFC1). Without adequate RFC1 function, even normal blood folate levels can mask cellular deficiency. The -43TC variant...

rs4794067 Promoter variant ~1993 bp upstream of TBX21 (encoding the T-bet master transcription factor) that reduces TBX21 expression and blunts Th1-mediated immunity; the C allele is associated with altered Th1/Th2 balance, hypothyroidism susceptibility, and aspirin-induced asthma risk in Asian populations.

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

Your immune system constantly chooses between attack strategies. When a cell is infected by a virus or bacteria, T-bet(https://pubmed.ncbi.nlm.nih.gov/15806396/) tells helper T cells to become Th1 fighters, flooding the tissue with interferon-gamma (IFN-gamma) to kill infected cells. When parasites or allergens...

rs58440431 Intronic CYP2D6 variant tagging East Asian *10-lineage suballeles; the C allele co-segregates with reduced-function haplotypes affecting metabolism of ~25% of prescribed medications

Chromosome 22 Risk Allele C Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Pain Medication, Antidepressants, Ancestry-Specific

Your genome contains a note at position rs58440431 in the CYP2D6 gene — the enzyme responsible for metabolizing approximately 25% of all prescribed medications, from opioid pain relievers to antidepressants to beta-blockers. This intronic variant, located 90 base pairs into intron 6, does not alter the CYP2D6...

rs63749885 Pathogenic PSEN1 missense mutation (His163Tyr) that impairs gamma-secretase processivity, elevating the Aβ42/Aβ40 ratio and causing autosomal dominant early-onset familial Alzheimer's disease with average onset around age 51.

Chromosome 14 Risk Allele T Category Neurology & Cognition Tags Alzheimer's, Neurodegeneration, Dementia, Cognitive Decline, Amyloidosis, Genetic Counseling

PSEN1(https://www.ncbi.nlm.nih.gov/gene/5663) is the most frequently mutated gene in familial early-onset Alzheimer's disease. More than 300 pathogenic mutations have been identified; the H163Y substitution is among the best-characterised, having been tracked in a Swedish family for over three decades. Carriers...

rs780096 Intronic GCKR enhancer variant that modulates FOXA2-driven GCKR expression in liver; the C allele reduces GCKR expression and weakens hepatic glucokinase braking, contributing to the glucose-triglyceride trade-off pattern characteristic of the GCKR locus — lower fasting glucose and insulin at the cost of elevated triglycerides and NAFLD susceptibility

Chromosome 2 Risk Allele C Category Blood Sugar & Diabetes Tags Triglycerides, Fat Metabolism, Insulin, Diabetes, Liver Health, Diet

Glucokinase regulatory protein (GCKRP), encoded by GCKR on chromosome 2, acts as a brake on hepatic glucokinase — the enzyme that drives the liver's glucose uptake after meals. The rs780096 variant sits within an intronic enhancer that controls how much GCKRP the liver produces. The G allele of rs780096 anchors the...

rs4950928 Promoter variant controlling YKL-40 (chitinase 3-like 1) expression; the common C allele drives higher circulating YKL-40 levels and increased susceptibility to asthma and airway inflammation

Chromosome 1 Risk Allele C Category Allergy & Atopic Disease Tags Autoimmune, Inflammation, Asthma, Biomarkers, Immune & Autoimmune, Respiratory Infections

YKL-40 — named after the amino acids tyrosine (Y), lysine (K), and leucine (L) and its 40-kDa molecular weight — is one of the most clinically informative biomarkers of tissue inflammation. Elevated circulating YKL-40 marks active inflammation in asthma, COPD, rheumatoid arthritis, and several cancers. The protein...

rs6025 Factor V Leiden - blood clotting disorder affecting thrombosis risk

Chromosome 1 Risk Allele T Category Pharmacogenomics Tags Cardiovascular, Blood Thinners, Thrombophilia

Factor V Leiden is the most common inherited thrombophilia| Thrombophilia: an inherited tendency to form blood clots more easily than normal in people of European descent. Named after the Dutch city of Leiden where it was discovered in 1994 by Bertina et al.(https://pubmed.ncbi.nlm.nih.gov/8164741/), this variant...

rs63749891 Pathogenic PSEN1 missense variant at codon 278 that disrupts gamma-secretase substrate processing, shifts amyloid-beta production toward longer amyloidogenic species (Aβ42, Aβ43), and causes autosomal dominant early-onset familial Alzheimer's disease typically presenting between ages 40 and 55.

Chromosome 14 Risk Allele T Category Neurology & Cognition Tags Alzheimer's, Dementia, Neurodegeneration, Neurological Risk, Genetic Counseling, Amyloidosis

PSEN1(https://omim.org/entry/104311) is the most mutation-rich gene in all of medicine, with over 300 pathogenic variants documented in the PSEN1 mutation database. Among these, the Arg278 codon is a hotspot: two independent single-nucleotide substitutions — R278I (c.833GT, rs63749891 T allele) and R278T (c.833GC,...

rs7903146 Main type 2 diabetes risk variant - strongly modulated by dietary fat

Chromosome 10 Risk Allele T Category Blood Sugar & Diabetes Tags Diabetes, Fat Metabolism, Diet, Insulin

TCF7L2 (Transcription Factor 7 Like 2) is arguably the most important gene for understanding your dietary needs. It encodes a transcription factor involved in the Wnt signaling pathway| The Wnt pathway regulates cell growth and differentiation, and is critical for pancreatic beta-cell development and function, which...

rs6062486 Intronic variant in RTEL1 (regulator of telomere elongation helicase 1) associated with atopic dermatitis risk; the A allele increases AD susceptibility through impaired telomere-dependent immune cell renewal

Chromosome 20 Risk Allele A Category Allergy & Atopic Disease Tags Immune & Autoimmune, Telomere Biology, DNA Repair, Skin Health, Inflammation, Autoimmune

The RTEL1 gene encodes regulator of telomere elongation helicase 1(https://pubmed.ncbi.nlm.nih.gov/37794016/), an enzyme critical to keeping the caps of chromosomes intact during cellular replication. While RTEL1 is best known from rare loss-of-function mutations causing dyskeratosis congenita and...