Intronic variant in the neurotrophin sorting receptor SORCS3, the top GWAS hit for major depression in the Howard et al. 2019 meta-analysis of 807,553 individuals; the G allele impairs glutamate receptor trafficking, fear extinction, and synaptic plasticity

Melatonin receptor variant that extends nighttime melatonin signaling in pancreatic beta cells, impairing glucose-stimulated insulin secretion — especially when meals are eaten late

Intronic GWAS obesity variant in MTCH2 — affects mitochondrial energy balance, adipogenesis, and fatty acid oxidation through CPT1 regulation

Synonymous variant in PIWIL1 associated with increased epithelial ovarian cancer risk in southern Chinese women; the AA genotype confers a roughly 5.7-fold elevated risk in case-control data.

Intronic ADIPOR2 variant co-associated with cardiovascular disease risk in individuals with impaired glucose tolerance, tagging a haplotype of reduced hepatic adiponectin signaling through the ADIPOR2 locus

FTO intron 1 variant associated with BMI and body fat accumulation, with strongest effects seen in Hispanic and African American populations

Intronic PLCE1 variant where the A allele raises systolic blood pressure and confers genome-wide significant risk for preeclampsia and pregnancy-induced hypertension through impaired podocyte calcium signaling and vascular pressure regulation

Near-TERC regulatory variant where the minor T allele associates with shorter telomeres and accelerated cellular aging, while the major C allele produces longer telomeres but paradoxically increases risk for certain cancers

Upstream regulatory variant in CYP7A1 that tags haplotypes affecting bile acid synthesis rate and LDL cholesterol clearance

Upstream regulatory variant in FCRL3 with a strong eQTL effect on FCRL3 expression in B cells, contributing to susceptibility to IgA nephropathy and potentially other autoimmune conditions through altered B cell receptor signalling thresholds