Pathogenic nonsense variant in HNF4A causing MODY1 — a progressive, autosomal dominant monogenic diabetes with neonatal hypoglycemia and sulfonylurea sensitivity

Missense variant in methionine synthase reductase that raises homocysteine when vitamin B12 is low, affecting B12-dependent methylation efficiency

3'-UTR variant in ELOVL2 associated with altered EPA-to-DHA conversion; A allele carriers tend to have lower baseline DHA and greater DHA response to marine omega-3 supplementation

Decreased-function variant causing reduced thiopurine methylation; pairs with TPMT*3C on the same chromosome to form the TPMT*3A haplotype, the most common cause of TPMT deficiency in Europeans

Core circadian clock transcription factor variant affecting mRNA stability, associated with evening preference, delayed sleep onset, and shorter sleep duration

Intronic TLR4 variant in the innate immune receptor gene; the A allele associates with modestly reduced vascular inflammation and lower risk of nonfatal myocardial infarction, while the common GG genotype is linked to higher atherosclerotic cerebral infarction risk

Synonymous IGF1R variant associated with lower circulating IGF-1 levels and enrichment in long-lived populations — affects mRNA splicing despite preserving the amino acid sequence

Intronic ABCA1 variant associated with lower HDL-cholesterol susceptibility and coronary heart disease risk at one of the most replicated lipid GWAS loci

Intronic variant in FGFR1OP (CEP43) at the RNASET2-FGFR1OP-CCR6 autoimmune susceptibility locus, with the T allele increasing risk for Crohn's disease, rheumatoid arthritis, and related autoimmune conditions

Intergenic tag SNP near NEGR1 associated with elevated BMI and major depression risk through hypothalamic NEGR1 expression — one of the most replicated obesity GWAS loci and a genome-wide significant depression locus