Gene Library

Browse Variants

Variant Gene Category Result
rs1001179 CAT Catalase promoter variant affecting hydrogen peroxide clearance and antioxidants defense capacity CAT Biological Aging & Telomeres —
rs10455872 LPA Intronic variant strongly associated with elevated lipoprotein(a) levels and significantly increased risk of coronary artery disease and aortic valve stenosis LPA Heart & Cardiovascular —
rs1042522 TP53 p53 codon 72 polymorphism producing two functionally distinct proteins — Arg72 with stronger apoptotic activity, Pro72 favoring cell cycle arrest and DNA repair — with population data associating Pro/Pro with ~3 years longer median lifespan TP53 Biological Aging & Telomeres —
rs11591147 PCSK9 Loss-of-function variant that naturally lowers LDL cholesterol by 15-28% and reduces coronary disease risk by up to 47% PCSK9 Heart & Cardiovascular —
rs10830963 MTNR1B Melatonin receptor variant that extends nighttime melatonin signaling in pancreatic beta cells, impairing glucose-stimulated insulin secretion — especially when meals are eaten late MTNR1B Hormones & Circadian Rhythm —
rs11206244 DIO1 Common variant in the 3' UTR of the DIO1 gene affecting thyroid hormone metabolism and T3/T4 ratio DIO1 Hormones & Circadian Rhythm —
rs1050450 GPX1 Selenium-dependent antioxidant enzyme that neutralizes hydrogen peroxide; the Leu variant reduces enzyme activity and responsiveness to selenium GPX1 Biological Aging & Telomeres —
rs11209026 IL23R Strongly protective variant against inflammatory bowel disease and other autoimmune conditions through impaired IL-23 signaling IL23R Inflammation & Immune Aging —
rs11555236 SIRT3 Intronic regulatory variant near the SIRT3 VNTR enhancer — the A allele increases SIRT3 expression and is linked to longevity in women SIRT3 Biological Aging & Telomeres —
rs1800562 HFE Primary variant causing hereditary hemochromatosis type 1, disrupting iron regulation and hepcidin signaling HFE Metabolism & Blood Sugar —
rs1800629 TNF Promoter variant increasing TNF-alpha production approximately 2-fold, associated with autoimmune diseases and anti-TNF drug response TNF Inflammation & Immune Aging —
rs1205 CRP 3' UTR variant that modulates baseline C-reactive protein levels and inflammatory status CRP Inflammation & Immune Aging —
rs1333049 CDKN2B-AS1 Strongest GWAS signal for coronary artery disease; risk C allele accelerates vascular senescence by dysregulating ANRIL-mediated repression of the p16/p15 cell-cycle-inhibitor cluster at 9p21.3 CDKN2B-AS1 Heart & Cardiovascular —
rs12696304 TERC Regulatory variant near the telomerase RNA gene associated with shorter telomeres and accelerated cellular aging TERC Biological Aging & Telomeres —
rs11136000 CLU Intronic variant in clusterin gene affecting Alzheimer's disease risk through regulation of amyloid-beta clearance CLU Brain & Cognition —
rs1501299 ADIPOQ Intronic variant in the adiponectin gene that influences circulating adiponectin levels, insulin sensitivity, and metabolic response to diet; the T allele is associated with lower adiponectin and higher insulin resistance ADIPOQ Metabolism & Blood Sugar —
rs17782313 MC4R Intergenic variant 188kb downstream of MC4R affecting appetite regulation, meal size, and obesity risk MC4R Metabolism & Blood Sugar —
rs143383 GDF5 Regulatory variant in GDF5 affecting cartilage development and osteoarthritis risk in knees, hips, and spine GDF5 Skeletal & Joints —
rs16944 IL1B Promoter variant affecting IL-1 beta production, influencing inflammatory response and cardiovascular disease risk IL1B Inflammation & Immune Aging —
rs174547 FADS1 Omega-3 fatty acid conversion efficiency - affects ability to make EPA/DHA from plant sources FADS1 Metabolism & Blood Sugar —
rs58542926 TM6SF2 Lipid transport variant that impairs VLDL secretion, creating a paradoxical trade-off between liver and heart health TM6SF2 Metabolism & Blood Sugar —
rs231775 CTLA4 Missense variant in the CTLA-4 leader peptide that reduces surface expression of this immune checkpoint receptor, increasing T cell activity and autoimmune disease risk CTLA4 Inflammation & Immune Aging —
rs1800012 COL1A1 Sp1 transcription factor binding site polymorphism affecting collagen production, bone mineral density, and osteoporotic fracture risk COL1A1 Skeletal & Joints —
rs1800775 CETP CETP promoter variant that reduces CETP expression via Sp1/Sp3 repression, raising HDL cholesterol by ~3–6 mg/dL in A allele carriers CETP Heart & Cardiovascular —
rs1800872 IL10 Promoter variant affecting IL-10 production — a key anti-inflammatory cytokine regulating inflammation and cardiovascular risk IL10 Inflammation & Immune Aging —
rs2476601 PTPN22 The strongest non-HLA autoimmune risk allele, affecting T-cell and B-cell signaling threshold PTPN22 Inflammation & Immune Aging —
rs1799941 SHBG Promoter region variant affecting sex hormone-binding globulin levels, with the A allele increasing SHBG by 15-25% and influencing free testosterone and estradiol bioavailability SHBG Hormones & Circadian Rhythm —
rs738409 PNPLA3 Strongest genetic risk factor for non-alcoholic fatty liver disease, progression to cirrhosis, and hepatocellular carcinoma PNPLA3 Metabolism & Blood Sugar —
rs1800795 IL6 Promoter variant controlling interleukin-6 expression — affects inflammation, exercise recovery, and cardiovascular risk IL6 Inflammation & Immune Aging —
rs688 LDLR Synonymous LDLR variant that disrupts exon 12 splicing, reduces LDL receptor surface expression by ~22%, and raises LDL cholesterol — particularly in pre-menopausal women LDLR Heart & Cardiovascular —
rs1801260 CLOCK Core circadian clock transcription factor variant affecting mRNA stability, associated with evening preference, delayed sleep onset, and shorter sleep duration CLOCK Hormones & Circadian Rhythm —
rs2229765 IGF1R Synonymous IGF1R variant associated with lower circulating IGF-1 levels and enrichment in long-lived populations — affects mRNA splicing despite preserving the amino acid sequence IGF1R Metabolism & Blood Sugar —
rs5186 AGTR1 3' UTR variant in angiotensin II type 1 receptor affecting blood pressure regulation and ARB drug response AGTR1 Heart & Cardiovascular —
rs2295080 MTOR Promoter variant that reduces mTOR expression; the G allele lowers mTOR transcriptional activity and is associated with decreased cancer risk across multiple tumor types MTOR Metabolism & Blood Sugar —
rs1695 GSTP1 Phase II detoxification enzyme that conjugates glutathione to carcinogens, drugs, and oxidative stress products; this variant alters the active site geometry, changing substrate specificity GSTP1 Methylation & Antioxidants —
rs1801282 PPARG Insulin sensitivity - affects how well your cells respond to insulin PPARG Metabolism & Blood Sugar —
rs2542052 APOC3 Promoter variant that reduces APOC3 expression, associated with lower triglycerides, favorable lipoprotein profiles, and enrichment in centenarians APOC3 Heart & Cardiovascular —
rs17649553 MAPT Haplotype-tagging variant distinguishing MAPT H1 and H2 clades, affecting risk for Parkinson disease, progressive supranuclear palsy, and other tauopathies MAPT Brain & Cognition —
rs1799983 NOS3 Nitric oxide production - reduced activity increases cardiovascular risk and oxidative stress NOS3 Heart & Cardiovascular, Methylation & Antioxidants —
rs2736100 TERT Common intron 2 variant in the telomerase gene that influences telomere length, with the C allele associated with longer telomeres and increased cancer risk, while the A allele links to shorter telomeres and higher risk of degenerative diseases TERT Biological Aging & Telomeres —
rs1800566 NQO1 Phase II detoxification enzyme that reduces quinones and recycles CoQ10 to its active ubiquinol form; variant causes near-complete loss of enzyme activity NQO1 Biological Aging & Telomeres —
rs2234693 ESR1 Estrogen receptor alpha intron variant affecting receptor expression and estrogen sensitivity ESR1 Hormones & Circadian Rhythm —
rs225014 DIO2 Affects conversion of inactive T4 to active T3 thyroid hormone in brain, pituitary, and peripheral tissues DIO2 Hormones & Circadian Rhythm —
rs429358 APOE Lipid metabolism and Alzheimer's risk - E4 carriers respond worse to high saturated fat APOE Brain & Cognition —
rs1801131 MTHFR Second MTHFR variant affecting enzyme activity in the regulatory domain MTHFR Methylation & Antioxidants —
rs2802292 FOXO3 Longevity-associated intronic enhancer variant with 1.9-fold increased probability of reaching age 95 FOXO3 Biological Aging & Telomeres —
rs4986790 TLR4 Missense variant in Toll-like receptor 4 reducing bacterial endotoxin recognition and dampening inflammatory responses TLR4 Inflammation & Immune Aging —
rs1801133 MTHFR Key enzyme for converting folate to its active methylfolate form MTHFR Methylation & Antioxidants —
rs228697 PER3 Core clock gene variant that shifts circadian period length and influences morning vs evening chronotype PER3 Hormones & Circadian Rhythm —
rs662 PON1 Affects paraoxonase-1 enzyme activity for detoxifying organophosphates and protecting LDL from oxidation PON1 Heart & Cardiovascular —
rs2854116 APOC3 APOC3 promoter variant that disrupts insulin suppression of ApoC-III, raising plasma triglycerides and NAFLD risk APOC3 Heart & Cardiovascular —
rs3736228 LRP5 Wnt signaling co-receptor variant affecting bone mineral density and fracture risk LRP5 Skeletal & Joints —
rs1801394 MTRR B12 recycling enzyme — regenerates active B12 for the methylation cycle MTRR Methylation & Antioxidants —
rs2304672 PER2 Regulatory variant in a core clock gene that influences circadian timing, sleep-wake preference, and reward processing PER2 Hormones & Circadian Rhythm —
rs350845 SIRT6 Intronic eQTL in SIRT6 where the rare A allele upregulates SIRT6 expression across 18 tissue types and is enriched in Ashkenazi Jewish centenarians, linking higher SIRT6 activity to improved genomic stability and longevity SIRT6 Biological Aging & Telomeres —
rs1805087 MTR Methionine synthase — uses B12 to convert homocysteine to methionine MTR Methylation & Antioxidants —
rs3758391 SIRT1 Promoter-region variant in SIRT1 affecting deacetylase expression; T allele elevates SIRT1 levels and is associated with better cognition but increased metabolic and cancer risk; C allele is the common protective form SIRT1 Biological Aging & Telomeres —
rs7412 APOE APOE E2 variant - generally protective for cardiovascular health APOE Brain & Cognition —
rs9939609 FTO The most strongly replicated obesity-associated variant, affecting body weight through reduced adipocyte thermogenesis FTO Metabolism & Blood Sugar —
rs659366 UCP2 Promoter variant at position -866 of UCP2 that controls mitochondrial uncoupling protein expression; the T allele (A in coding-strand notation) increases UCP2 transcription, lowering ROS production and reducing insulin resistance, while C-allele homozygotes have lower UCP2 activity and carry higher oxidative-stress burden UCP2 Metabolism & Blood Sugar —
rs9594759 TNFSF11 Regulatory variant in the RANKL gene affecting bone mineral density and osteoporotic fracture risk TNFSF11 Skeletal & Joints —
rs6721961 NFE2L2 Promoter variant reducing NRF2 transcriptional activity by >50%, impairing the master antioxidant response that controls glutathione synthesis, phase II detoxification, and cytoprotective gene expression NFE2L2 Methylation & Antioxidants —
rs234706 CBS Common synonymous variant in the CBS gene associated with reduced cardiovascular disease risk and enhanced response to folate supplementation CBS Methylation & Antioxidants —
rs4446909 ASMT Final enzyme in melatonin synthesis; promoter variant reduces ASMT expression and lowers melatonin production, affecting sleep onset and circadian rhythm ASMT Hormones & Circadian Rhythm —
rs7895833 SIRT1 Intronic variant in SIRT1 affecting NAD-dependent deacetylase expression and oxidative stress protection SIRT1 Biological Aging & Telomeres —
rs9536314 KLOTHO Longevity-associated variant exhibiting overdominance where heterozygotes show enhanced cognition and lifespan while homozygotes have reduced survival KLOTHO Biological Aging & Telomeres —
rs356182 SNCA Parkinson's disease GWAS risk variant affecting alpha-synuclein expression and neuronal differentiation SNCA Brain & Cognition —
rs4680 COMT Dopamine/catecholamine breakdown — affects stress response and methyl donor tolerance COMT Methylation & Antioxidants —
rs3851179 PICALM Variant in the PICALM gene affecting amyloid-beta clearance across the blood-brain barrier and Alzheimer's disease risk PICALM Brain & Cognition —
rs700518 CYP19A1 Synonymous variant in aromatase gene affecting estrogen production, bone density, and response to aromatase inhibitors CYP19A1 Hormones & Circadian Rhythm —
rs4880 SOD2 Primary mitochondrial antioxidant enzyme - variant reduces superoxide detoxification in mitochondria SOD2 Biological Aging & Telomeres —
rs6265 BDNF Key neurotrophin variant that controls activity-dependent BDNF release, affecting memory consolidation, neuroplasticity, and stress resilience BDNF Brain & Cognition —
rs7903146 TCF7L2 Main type 2 diabetes risk variant - strongly modulated by dietary fat TCF7L2 Metabolism & Blood Sugar —
rs744373 BIN1 Second strongest genetic risk factor for Alzheimer's disease after APOE, associated with increased tau pathology and accelerated cognitive decline BIN1 Brain & Cognition —
rs75932628 TREM2 Rare missense variant in microglial receptor TREM2 that significantly increases late-onset Alzheimer's disease risk through impaired microglial function and amyloid clearance TREM2 Brain & Cognition —
75 variants