Showing 10/1,813 articles

  • 10 / page
  • 25 / page
  • 50 / page
  • 100 / page
rs10505806 — MGST1
Chromosome 12 Risk Allele T Category Vascular Inflammation & Remodeling Aspirin Response, Colorectal Cancer, Cancer Risk, Inflammation, Cardiovascular

Intergenic variant near MGST1 that modifies whether aspirin/NSAIDs reduce colorectal cancer risk; T allele carriers may lose the protective benefit

Continue reading
rs10514299 — TMEM161B-MEF2C TMEM161B-MEF2C intergenic variant
Chromosome 5 Risk Allele T Category Mood & Behavior Depression, Mood, Neuroplasticity, Brain Health, Mental Health, Serotonin

Intronic variant near the MEF2C transcription factor locus associated with increased risk of major depressive disorder through altered neuronal synapse regulation

Continue reading
rs10515237 — PCSK1 PCSK1 A/G (rs10515237)
Chromosome 5 Risk Allele G Category Appetite & Obesity Insulin, Obesity, Appetite, Pancreatic Beta Cell, Energy Metabolism, Diabetes

Intronic variant in PCSK1 that tags the Q665E-S690T functional haplotype, reducing prohormone convertase 1/3 activity and impairing processing of proinsulin to insulin and POMC to satiety peptides

Continue reading
rs1052373 — MYBPC3
Chromosome 11 Risk Allele C Category Fitness & Body Endurance, Cardiovascular, Fitness, Steroid Metabolism, VO2max, Athletic Performance

Cardiac myosin-binding protein variant strongly associated with endurance athlete status and elevated VO2max

Continue reading
rs1054564 — GDF15 GDF15 3'UTR rs1054564
Chromosome 19 Risk Allele C Category Endometriosis & Uterine Health Fertility, Reproductive Health, Women's Health, Metabolic, Inflammation, Cardiovascular

3'UTR variant that controls GDF15 expression via microRNA regulation — C allele raises baseline GDF15 (metabolic and atherosclerosis risk); G allele lowers it (increased pregnancy nausea sensitivity)

Continue reading
rs1059369 — GDF15 S48T
Chromosome 19 Risk Allele A Category Fat Storage & Energy Growth Factors, Appetite, Cardiovascular, Metabolic Health, Biomarkers

GDF15 signal-peptide missense variant that tags a haplotype influencing circulating GDF15 levels — a stress-responsive cytokine driving appetite suppression, nausea, and cardiometabolic stress signaling via the brainstem GFRAL receptor

Continue reading
rs1061170 — CFH Y402H
Chromosome 1 Risk Allele C Category Skin & Eyes Eye Health, Inflammation, Cardiovascular, Aging, Smoking Interaction, Complement System, Age-Related Macular Degeneration

Strongly increases risk of age-related macular degeneration through impaired complement regulation on retinal cells and drusen formation

Continue reading
rs1064608 — MTCH2 Pro290Ala
Chromosome 11 Risk Allele C Category Hormones & Sleep Sleep, Mitochondria, Obesity, Energy Metabolism, Metabolic, Cardiovascular

Missense variant in MTCH2 that reduces mitochondrial metabolic efficiency, increasing risk for obesity and sleep disruption through impaired energy substrate switching

Continue reading
rs10773771 — PIWIL1 PIWIL1 3'UTR C>T
Chromosome 12 Risk Allele C Category Fertility & Ovarian Function Fertility, Ovarian Reserve, Cancer Risk, Genomic Stability, Women's Health, Reproductive Health

A 3' UTR variant in PIWIL1 that alters miRNA binding to the transcript and modifies PIWIL1 expression; the T allele is associated with decreased epithelial ovarian cancer susceptibility in southern Chinese women, consistent with PIWIL1's role in piRNA-mediated genome stability in ovarian follicular cells

Continue reading
rs10794648 — IFNLR1/GRHL3
Chromosome 1 Risk Allele C Category Interferon Signaling & Systemic Autoimmune Autoimmune, Psoriasis, Skin Health, Interferon, Innate Immunity, Skin

Intergenic regulatory variant near IFNLR1 that contacts GRHL3 via chromatin looping in keratinocytes — the C (risk) allele is associated with psoriasis susceptibility, linking type III interferon receptor signaling and epidermal barrier transcription factor control at the same locus

Continue reading