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rs6814664 — SLC2A9 SLC2A9 Uric Acid Transport Variant
Chromosome 4 Risk Allele C Category Blood Sugar & Diabetes Gout, Uric Acid, Kidney Function, Cardiovascular, Metabolic Syndrome

Intronic SLC2A9 variant tagging a regulatory signal for renal urate reabsorption; the C allele is associated with higher serum uric acid and elevated gout risk, with substantially stronger effects in women; the T allele confers modestly reduced urate and partial gout protection

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rs71748309 — GSTT1 Null (Gene Deletion)
Chromosome 22 Risk Allele D Category Methylation & Detox Detoxification, Glutathione, Phase II, Methylation & Detox, Cancer Risk, Environmental Toxins, Xenobiotics, Carcinogen Metabolism, NRF2 Target

Complete deletion of the GSTT1 gene eliminating glutathione conjugation capacity for industrial solvents and certain carcinogens

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rs9394502 — BTBD9 BTBD9 insomnia/RLS variant
Chromosome 6 Risk Allele T Category Hormones & Sleep Sleep, Iron, Dopamine, Neurological Risk, Circadian

Intronic variant in the canonical restless legs syndrome gene BTBD9, associated with insomnia and RLS susceptibility via iron-dependent dopaminergic regulation in the brain

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rs3771166 — IL1RL1/IL18R1
Chromosome 2 Risk Allele G Category Allergy & Atopic Disease Asthma, Inflammation, Autoimmune, Innate Immunity, Respiratory Infections, Immune System

GABRIEL Consortium lead GWAS SNP at the IL1RL1/IL18R1 locus on chromosome 2q12; G risk allele increases asthma susceptibility (OR 1.15, p=3×10⁻⁹) by tagging regulatory variation affecting IL-18 receptor and ST2 expression in type 2 immune responses

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rs55785340 — CYP3A4 *2
Chromosome 7 Risk Allele G Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Statins, Cardiovascular, Immunosuppressants, Ancestry-Specific

Missense variant reducing CYP3A4-mediated nifedipine clearance, causing elevated exposure to statins and other CYP3A4 substrates in heterozygous carriers

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rs61734410 — CACNA1H Pro640Leu
Chromosome 16 Risk Allele T Category Neurology & Cognition Cognition, Memory, Neuroplasticity, Migraine, Calcium, Brain Health

Missense variant in CACNA1H encoding the CaV3.2 T-type calcium channel; the Leu640 allele has population-level associations with migraine risk and alters channel pharmacodynamics, set against a backdrop of CaV3.2's established role in hippocampal memory consolidation and synaptic plasticity.

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rs6815001 — SLC2A9 SLC2A9 Renal Urate Clearance Variant
Chromosome 4 Risk Allele G Category Blood Sugar & Diabetes Gout, Uric Acid, Kidney Function, Insulin Resistance, Metabolic Syndrome, Cardiovascular

Intronic variant in the major renal urate transporter; the G allele tags a haplotype associated with reduced urate excretion and elevated serum uric acid, while the C allele is protective; this is an independent signal at the SLC2A9 locus distinct from the Arg265His missense variant (rs3733591)

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rs7946 — PEMT Val175Met
Chromosome 17 Risk Allele T Category Methylation & Detox Methylation, Folate, B Vitamins, Diet

Phosphatidylcholine production — affects dietary choline requirements

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rs9479402 — VIP VIP chronotype variant
Chromosome 6 Risk Allele C Category Hormones & Sleep Circadian, Chronotype, Sleep, Hormones, Brain Health, Neurotransmitters

Intergenic variant ~54 kb downstream of the VIP gene; the C allele reduces VIP signaling capacity in the suprachiasmatic nucleus and is associated with evening preference and delayed sleep timing

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rs3771175 — IL1RL1 IL1RL1 receptor variant
Chromosome 2 Risk Allele T Category Allergy & Atopic Disease Asthma, Inflammation, Innate Immunity, Autoimmune, Biologic Therapy, Lung Health

A 3'-UTR variant in IL1RL1 (the ST2 receptor gene); the A allele increases ST2 expression and is associated with reduced allergic rhinitis risk, making it a protective counterpart to the primary IL-33/ST2 signaling axis variants at this locus

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