Enzyme critical for energy production during high-intensity exercise; deficiency reduces sprint and power performance

Intronic VEGFC variant independently associated with reduced diabetic retinopathy and diabetic macular edema risk; the protective T allele modulates VEGF-C-driven pathological retinal neovascularization

Pathogenic missense variant in glucose-6-phosphatase catalytic subunit 1 causing glycogen storage disease type Ia; the most common G6PC1 disease allele in European and Ashkenazi Jewish populations, with complete abolition of enzyme activity when homozygous; heterozygous carriers are clinically unaffected but carry reproductive risk

Missense variant in the ATM DNA-damage kinase associated with increased radiation sensitivity and mildly altered genomic stability signaling

Intronic M6PR variant associated with modest hypertension risk in East Asian populations through lysosomal trafficking and intracellular receptor recycling pathways

A rare missense variant in the C1 immunoglobulin domain of cardiac myosin-binding protein C, found in individuals with hypertrophic and dilated cardiomyopathy; classified as a variant of uncertain significance with conflicting evidence for independent pathogenicity

Intronic variant near the CNR1 exon 3 alternative promoter that modulates CB1 receptor mRNA isoform balance; the C (risk) allele is associated with greater hippocampal volume loss in heavy cannabis users, heightened cannabis withdrawal and craving, and participation in a female-specific nicotine dependence haplotype

NOD2 bacterial sensor variant that increases Crohn's disease risk by impairing immune response to gut bacteria

Intronic variant in the estrogen receptor alpha gene at the 6q25.1 locus independently associated with endometriosis susceptibility; the T allele modestly increases risk (OR ~1.10) and lies near ARMT1 (Acidic Residue Methyltransferase 1), influencing estrogen-sensitive gene regulation at this replicated endometriosis GWAS locus

Missense variant in MC4R converting valine to isoleucine at position 103; the I103 allele confers modest but replicable protection against obesity and improves metabolic syndrome components