rs9348724
Regulatory variant 2 kb upstream of SYCP2L; each copy of the minor C allele associates with approximately 0.26 additional years before natural menopause, reflecting altered expression of a meiotic chromosome-pairing protein in oocytes
Chromosome
6
Risk Allele
C
Category
Fertility & Ovarian Function
Tags
Ovarian Reserve, Menopause, Fertility, Reproductive Health, Women's Health, Genomic Stability
Inside every primary oocyte, a protein called SYCP2L quietly anchors chromosomes to their meiotic pairing sites. When the synaptonemal complex assembles during prophase I — the critical period when maternal and paternal chromosomes zip together and exchange genetic material — SYCP2L acts as a structural anchor,...
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rs1420101
Intronic regulatory variant in IL1RL1 that lowers soluble ST2 (sST2) decoy receptor levels, amplifying IL-33 signaling and increasing susceptibility to asthma, hay fever, and atopic disease
Chromosome
2
Risk Allele
T
Category
Allergy & Atopic Disease
Tags
Asthma, Inflammation, Autoimmune, Biologic Therapy, Innate Immunity, Skin
Your immune system uses a signaling molecule called IL-33(https://pubmed.ncbi.nlm.nih.gov/27699235/) to raise the alarm when the body's barrier tissues are threatened. IL1RL1 encodes the ST2 receptor that detects this alarm. But the gene also produces a second, soluble form of the receptor — sST2 — that floats...
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rs1571583
Intronic GLIS3 variant in which the rare A allele modestly elevates TSH, reflecting reduced thyroid transcriptional activity; the same gene drives pancreatic beta cell development, linking thyroid-axis regulation to metabolic energy balance
Chromosome
9
Risk Allele
A
Category
Blood Sugar & Diabetes
Tags
Thyroid, Hormones & Thyroid, Energy Metabolism, Diabetes, Metabolic Health
Most genes do one job. GLIS3 (GLIS family zinc finger 3) does two: it is a master transcription factor required for the development of both thyroid follicular cells and pancreatic beta cells. Rare loss-of-function mutations in GLIS3 cause a syndrome of neonatal diabetes combined with congenital hypothyroidism — a...
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rs1695
Phase II detoxification enzyme that conjugates glutathione to carcinogens, drugs, and oxidative stress products; this variant alters the active site geometry, changing substrate specificity
Chromosome
11
Risk Allele
G
Category
Methylation & Detox
Tags
Detoxification, Glutathione, Phase II, Oxidative Stress, Antioxidants, NRF2 Target
Glutathione S-transferase Pi 1 (GSTP1) is one of the most important Phase II detoxification enzymes() in the human body. It catalyzes the conjugation of glutathione() to a broad range of electrophilic compounds -- carcinogens, chemotherapy drugs, products of oxidative stress, and environmental pollutants including...
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rs17070145
Influences episodic memory performance and hippocampal function through the KIBRA protein's role in synaptic plasticity
Chromosome
5
Risk Allele
C
Category
Neurology & Cognition
Tags
Cognition, Memory, Alzheimer's, Neuroplasticity, Brain Health
The KIBRA() gene encodes a postsynaptic scaffolding protein that plays a central role in memory formation. In 2006, a genome-wide association study made KIBRA the first gene linked to normal variation in human memory performance through unbiased genomic scanning. A common C-to-T change in intron 9 (rs17070145) was...
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rs1801282
Insulin sensitivity - affects how well your cells respond to insulin
Chromosome
3
Risk Allele
C
Category
Fat Storage & Energy
Tags
Diabetes, Insulin, Diet, Fat Metabolism, Adipogenesis, Obesity, Estrogen, Women's Health
PPARG| Full name: Peroxisome Proliferator-Activated Receptor Gamma is a nuclear receptor| Nuclear receptors are proteins that bind to DNA and directly regulate gene expression in response to hormones and metabolites that regulates fatty acid storage and glucose metabolism. It's the target of thiazolidinedione|...
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rs1934963
Deep intronic CYP2C9 variant associated with altered drug response to sulfonylurea antidiabetics and other CYP2C9 substrates
Chromosome
10
Risk Allele
C
Category
Pharmacogenomics
Tags
Drug Metabolism, Pharmacogenomics, Diabetes, Pain Medication, Warfarin
CYP2C9 is one of the most clinically important drug-metabolizing enzymes in the human body, responsible for clearing roughly 15-20% of all clinically used pharmaceuticals | CYP2C9 substrate drugs include warfarin, phenytoin, NSAIDs, and multiple sulfonylurea antidiabetics. The well-known functional variants CYP2C9\2...
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rs2050122
Regulatory variant near the HTR6 serotonin 6 receptor gene associated with chronotype; the minor T allele is linked to reduced morningness and a modest shift toward evening preference.
Chromosome
1
Risk Allele
T
Category
Hormones & Sleep
Tags
Circadian, Sleep, Chronotype, Serotonin, Brain Health, Mood
The serotonin 6 receptor(https://www.ncbi.nlm.nih.gov/gene/3362) is best known in pharmacology for being inadvertently blocked by most antipsychotics and several antidepressants. But rs2050122, a variant in the regulatory region flanking HTR6, has now emerged from large-scale genome-wide association studies as a...
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rs2104772
Affects tenascin C protein levels and elasticity, influencing tendon injury risk and exercise-induced tissue adaptation
Chromosome
9
Risk Allele
T
Category
Fitness & Body
Tags
Injury Risk, Tendon Health, Collagen, Extracellular Matrix, Angiogenesis, Exercise Recovery, Inflammation, Fitness
Your tendons are more than passive cables transmitting force from muscle to bone. They're dynamic, living tissues that constantly sense mechanical stress and adapt their internal structure. At the heart of this adaptation is tenascin...
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rs2197076
Intronic FABP1 variant associated with type 2 diabetes risk and insulin resistance; likely tags the functional haplotype containing the T94A missense in the liver fatty acid transport protein
Chromosome
2
Risk Allele
A
Category
Triglycerides & Fatty Acids
Tags
Fat Metabolism, Lipid Metabolism, Liver Health, Insulin Resistance, Metabolic, Micronutrients
FABP1 (Fatty Acid Binding Protein 1), also called L-FABP or liver FABP, is the most abundant cytosolic protein in human hepatocytes. It binds long-chain fatty acids, bile acids, and other hydrophobic ligands and shuttles them from the plasma membrane to the endoplasmic reticulum and mitochondria for esterification...
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