Rare stop-gain variant in CPT2 abolishing carnitine palmitoyltransferase II, the enzyme that shuttles long-chain fatty acids into mitochondria; carriers face elevated risk of exercise-induced rhabdomyolysis

Rare pathogenic missense variant in DCHS1 (R2513H) causing mitral valve prolapse type 2 through loss of protein stability and disrupted planar cell polarity signaling during valve development

MTX1 intronic variant at 1q22 tagging a gastric cancer susceptibility locus that regulates mucosal integrity via the MUC1/UBAP2L axis

Synonymous exon 2 variant in the adiponectin gene that affects mRNA stability and adiponectin secretion; the G allele is associated with lower circulating adiponectin, higher metabolic syndrome risk, and altered fat distribution

Missense variant in the orexin/hypocretin receptor 1 that alters G-protein signaling, increasing susceptibility to migraine, panic disorder, mood dysregulation, and heightened arousal responses

The strongest non-HLA autoimmune risk allele, affecting T-cell and B-cell signaling threshold

Synonymous coding variant in the cannabinoid receptor 2 gene that tags a haplotype block influencing CB2 receptor expression in immune cells; the G allele (coding-strand C) is associated with elevated rheumatoid arthritis risk and altered endocannabinoid-mediated immune regulation

Regulatory variant at the TMEM18 locus on chromosome 2p25.3 — one of the most replicated obesity GWAS signals — modulating hypothalamic appetite suppression via the paraventricular nucleus

Missense variant eliminating MMAB adenosylcobalamin synthase activity; the most common pathogenic allele in European cblB methylmalonic acidemia, causing absent enzyme protein and complete block of adenosylcobalamin synthesis

Intronic variant in the HLA class II region associated with nonobstructive azoospermia risk, likely through immune-mediated disruption of testicular spermatogenesis