Research — GeneOps

rs7041 Vitamin D binding protein variant that determines VDBP isoform, affecting vitamin D transport, bioavailability, and supplementation response

Chromosome 4 Risk Allele A Category Vitamin D Metabolism Tags Vitamin D, Bone Health, Diet, Micronutrients, Mineral Metabolism

Vitamin D travels through your bloodstream bound to a carrier protein called VDBP() (vitamin D binding protein). Roughly 85-90% of the vitamin D in your blood is bound to VDBP, making it the single largest determinant of how vitamin D is transported to tissues, how long it remains in circulation, and how much is...

rs1138272 Second functional variant in glutathione S-transferase Pi 1, reducing enzyme activity to ~80% of normal and defining key GSTP1 haplotypes that affect detoxification capacity and cancer susceptibility

Chromosome 11 Risk Allele T Category Methylation & Detox Tags Detoxification, Glutathione, Phase II, Oxidative Stress, Cardiovascular, NRF2 Target

Glutathione S-transferase Pi 1 (GSTP1) is one of the most abundant Phase II detoxification enzymes() in the human body, expressed at particularly high levels in the lungs, skin, oesophagus, and placenta. The enzyme catalyzes the conjugation of reduced glutathione (GSH)() to a wide range of electrophilic compounds --...

rs1169288 Common coding variant in the HNF1A transcription factor dimerization domain that modestly reduces beta-cell function and transactivation activity, raising LDL cholesterol and lowering CRP, while increasing type 2 diabetes risk in normal-weight individuals and accelerating diabetes onset in MODY3 carriers

Chromosome 12 Risk Allele C Category Blood Sugar & Diabetes Tags Diabetes, Pancreatic Beta Cell, MODY, Insulin, LDL Cholesterol, Cardiovascular

Your liver and pancreas run largely on a transcription factor called hepatocyte nuclear factor 1-alpha (HNF1A)(https://omim.org/entry/142410). The rs1169288 variant introduces an isoleucine-to-leucine substitution at codon 27 (p.Ile27Leu, c.79AC) — a subtle amino acid swap in HNF1A's dimerization domain that carries...

rs11931074 SNCA 3′-region variant in the extended 3′ UTR that affects alpha-synuclein mRNA stability and expression, consistently associated with Parkinson's disease risk across Asian and European populations

Chromosome 4 Risk Allele T Category Neurology & Cognition Tags Neurological Risk, Parkinson's, Neuroprotection, Brain Health, Oxidative Stress, Cognitive Decline

The SNCA gene(https://omim.org/entry/163890) harbours multiple independent risk variants spread across its genomic structure. rs11931074 sits in the 3′ downstream region of SNCA — within or adjacent to an extended 3′ untranslated region (3′ UTR) that recent research has shown stretches much further than previously...

rs12094543 Intronic variant in ZMYM4, a chromatin-remodeling transcription factor whose locus is associated with body fat distribution (waist-hip ratio, BMI-adjusted waist circumference) and immune regulation; rare deleterious ZMYM4 variants are enriched in severely obese children.

Chromosome 1 Risk Allele G Category Fat Storage & Energy Tags Fat Distribution, Obesity, Adipogenesis, Metabolic, Immune Function, Energy Metabolism

The ZMYM4 gene encodes a zinc finger MYM-type containing protein() located on chromosome 1p32. It is expressed broadly across tissues and has emerging roles in fat distribution, immune cell regulation, and developmental gene programs. The rs12094543 variant is an intronic tag SNP within ZMYM4 — it does not alter the...

rs12133641 Deep intronic IL6R variant associated with atopic dermatitis risk and systemic IL-6 signaling, with the G allele elevating eczema risk while reducing inflammatory cardiovascular markers through altered IL-6 receptor expression or splicing

Chromosome 1 Risk Allele G Category Allergy & Atopic Disease Tags Autoimmune, Inflammation, Skin Health, Immune Response, Biologic Therapy

The interleukin-6 receptor sits at one of the most versatile crossroads in human immunology. IL-6 is the cytokine that bridges innate and adaptive immunity, drives the acute-phase response (including C-reactive protein production), and modulates the balance between Th1-driven autoimmune inflammation and Th2-driven...

rs12686004 Intronic ABCA1 variant associated with population differences in HDL cholesterol capacity; the A allele tags reduced cholesterol efflux activity and lower HDL in carriers

Chromosome 9 Risk Allele A Category Cholesterol & Lipoproteins Tags Fat Metabolism, Cholesterol, Cardiovascular, HDL Cholesterol

Every cell in your body faces a fundamental challenge: how to safely remove excess cholesterol before it can accumulate and trigger damage. The solution is a large membrane pump called ABCA1(https://pubmed.ncbi.nlm.nih.gov/11714841/). This protein is the master regulator of the first step in reverse cholesterol...

rs12979860 Intronic variant in IFNL4 — the strongest host genetic predictor of hepatitis C spontaneous clearance and treatment response, controlling interferon lambda antiviral immunity

Chromosome 19 Risk Allele T Category Pharmacogenomics Tags Innate Immunity, Inflammation, Infectious Disease, Interferon, Immune & Autoimmune

When your body encounters a viral infection in the liver or airways, it deploys type III interferons(https://pubmed.ncbi.nlm.nih.gov/26437865/) as a first line of defence. The IFNL4 gene on chromosome 19q13.2 encodes interferon lambda-4(https://pubmed.ncbi.nlm.nih.gov/23291588/), but only in people who carry the T...

rs149007883 Rare protective missense variant in the NF-kB inhibitor zeta gene that reduces Th17-driven autoimmune thyroid inflammation and lowers hypothyroidism risk

Chromosome 3 Risk Allele C Category Hormones & Sleep Tags Thyroid, Autoimmune, T-Cell Regulation, Hormones & Thyroid, Inflammation, Immune & Autoimmune

Your thyroid is one of the most common targets of the immune system turning against itself. Hashimoto's thyroiditis(https://pubmed.ncbi.nlm.nih.gov/38999993/) affects up to 10% of women and is the leading cause of hypothyroidism in iodine-sufficient countries. A 2025 large-scale genetic study revealed that a rare...

rs17147230 Near-gene upstream variant in IL6 associated with hepatocellular carcinoma risk through altered interleukin-6 regulation — an independent inflammaging signal

Chromosome 7 Risk Allele T Category Longevity & Aging Tags Inflammation, Longevity, Liver Health, Cancer Risk, Inflammaging

Interleukin-6 (IL-6) is the master cytokine of inflammaging() — the biological state where the immune system runs a persistent low-level inflammatory programme that damages tissues over decades. The rs17147230 variant sits approximately 3,300 base pairs upstream of the IL6 gene on chromosome 7, in a position that...