Regulatory variant near the HTR6 serotonin 6 receptor gene associated with chronotype; the minor T allele is linked to reduced morningness and a modest shift toward evening preference.

Intronic FABP1 variant associated with type 2 diabetes risk and insulin resistance; likely tags the functional haplotype containing the T94A missense in the liver fatty acid transport protein

3'UTR variant that alters miR-150 binding affinity; the C allele increases microRNA-mediated suppression of MTOR expression and is associated with improved cancer prognosis and reduced mTOR pathway activity

Pathogenic missense variant in ALK1 kinase domain causing hereditary hemorrhagic telangiectasia type 2 (HHT2) and pulmonary arterial hypertension

Pathogenic LDLR missense variant (p.Tyr828Cys) that traps LDL receptors outside coated pits, causing familial hypercholesterolemia with severely elevated LDL-C and early-onset cardiovascular disease

Nonsense mutation in argininosuccinate lyase introducing a premature stop codon that abolishes the fourth step of the urea cycle; a founder allele in Arab populations causing argininosuccinic aciduria, the second most common urea cycle disorder — homozygotes develop neonatal hyperammonemia and require lifelong arginine supplementation, protein restriction, and hepatic surveillance

Promoter variant that disrupts an SP1 transcription factor binding site, increasing MMP-9 expression in vascular tissue; the T allele is associated with elevated plaque instability, higher risk of myocardial infarction, and increased ischemic stroke risk, particularly in Asian populations

Pathogenic missense variant in biotinidase that abolishes biotin recycling; heterozygous carriers have partial enzyme reduction while homozygotes and compound heterozygotes develop biotinidase deficiency requiring lifelong biotin supplementation

Splice donor variant disrupting DNAI1 intron 19, causing in-frame deletion of exon 19 (A607_K667del); pathogenic for autosomal recessive primary ciliary dyskinesia with outer dynein arm defects, chronic sinopulmonary disease, and situs inversus

Gain-of-function missense variant in the CARD9 adaptor protein that enhances antifungal immune signaling, increasing susceptibility to inflammatory bowel disease, allergic bronchopulmonary aspergillosis, and recurrent fungal infections