Showing 10/1,866 articles

  • 10 / page
  • 25 / page
  • 50 / page
  • 100 / page
rs6656401 — CR1 CR1 complement receptor Alzheimer's variant
Chromosome 1 Risk Allele A Category Neurology & Cognition Alzheimer's, Complement System, Neurological Risk, Neuroinflammation, Cognitive Decline, Brain Health

Intronic variant in the complement receptor 1 gene; the minor A allele impairs complement-mediated clearance of amyloid-beta and increases late-onset Alzheimer's disease risk with an odds ratio of ~1.21

Continue reading
rs67807361 — CYP2C9 p.Leu19Ile
Chromosome 10 Risk Allele A Category Pharmacogenomics Drug Metabolism, Warfarin, Pharmacogenomics, Pain Medication

Rare CYP2C9 N-terminal missense variant of uncertain functional significance in a CYP2C9 substrate metabolizer gene

Continue reading
rs71625130 — SNX27 1q21.3 T-cell signaling / Th17 locus variant
Chromosome 1 Risk Allele A Category Allergy & Atopic Disease Autoimmune, Inflammation, T-Cell Regulation, Skin Health, Asthma, Immune Response

Intronic SNX27 variant at the 1q21.3 GWAS locus that increases atopic dermatitis risk by disrupting T cell trafficking and immune synapse signalling; the locus also encompasses nearby RORC, the master Th17 transcription factor

Continue reading
rs66800491 — PVRL3
Chromosome 3 Risk Allele A Category Neurology & Cognition Sensory Processing, Vision, Neurological Risk, Brain Health, Eye Health

Intergenic variant ~1.1 Mb upstream of NECTIN3/PVRL3; the strongest genome-wide signal for motion sickness susceptibility (P=4.2×10⁻⁴⁴ in 80,494 individuals), attributed to the PVRL3 locus whose encoded cell adhesion protein is required for normal ocular development and visual sensory input to the brain

Continue reading
rs6923761 — GLP1R Gly168Ser
Chromosome 6 Risk Allele A Category Pharmacogenomics Drug Response, Diabetes, Obesity, Pharmacogenomics

GLP-1 receptor variant that alters response to GLP-1 agonist medications used for weight loss and type 2 diabetes

Continue reading
rs7192 — HLA-DRA HLA-DRA Leu242Val
Chromosome 6 Risk Allele T Category Allergy & Atopic Disease HLA, Food Sensitivity, Immune Response, Autoimmune, MHC Antigen Presentation, Inflammation

Missense variant (Leu242Val) in the HLA-DRA alpha chain; the T allele tags HLA class II haplotypes associated with peanut allergy (OR ~1.6, p=5.5×10⁻⁸) and is a functionally confirmed risk allele for drug hypersensitivity via altered antigen presentation

Continue reading
rs67338227 — FHL5
Chromosome 6 Risk Allele T Category Neurology & Cognition Migraine, Cardiovascular, Neurological Risk, Endothelial Health, Blood Pressure

Intronic variant in FHL5 (four and a half LIM domains 5), a transcriptional coactivator regulating cAMP-responsive gene programs in vascular smooth muscle cells; the T allele increases migraine susceptibility with an odds ratio of 1.09 per allele, identified across multiple large GWAS totaling over 160,000 cases

Continue reading
rs71328650 — CYP2D6
Chromosome 22 Risk Allele C Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Antidepressants, Pain Medication

Intronic CYP2D6 haplotype tag variant (rs28371702 canonical form) associated with altered drug metabolism ratios for CYP2D6 substrates including aripiprazole and praziquantel

Continue reading
rs7216389 — GSDMB ORMDL3 17q21 asthma risk
Chromosome 17 Risk Allele T Category Allergy & Atopic Disease Asthma, Lung Health, Inflammation, Immune Response, Respiratory Infections, Immune System

Intronic GSDMB variant that acts as an eQTL for ORMDL3; the T allele elevates ORMDL3 expression in airway cells, increasing sphingolipid-pathway ER stress and childhood asthma susceptibility

Continue reading
rs6746030 — SCN9A R1150W
Chromosome 2 Risk Allele A Category Neurology & Cognition Pain Sensitivity, Neurotransmitters, Anesthesia

Common variant in the Nav1.7 sodium channel affecting pain sensitivity and pain threshold

Continue reading