Intronic variant near the KLK4 enamel-maturation protease gene associated with increased dental caries susceptibility

Splice-region variant in MSH2 (c.2006-6T>C) located 6 bases upstream of exon 13 in the mismatch repair gene; the C allele is associated with altered mismatch repair expression and modestly elevated cancer prognosis signals across multiple tumour types; classified benign for Lynch syndrome

Intergenic variant near KCNH2 (hERG potassium channel) at 7q36.1 that shortens QTc interval and confers ~2.4x increased risk of early-onset lone atrial fibrillation in homozygous T allele carriers

Intronic variant near KCNK5 that reduces TASK2 potassium channel expression and increases migraine susceptibility; the T allele is associated with lower KCNK5 expression.

Pathogenic glucokinase missense variant causing MODY2 — mild, stable fasting hyperglycemia that typically requires no pharmacologic treatment

Pathogenic CYP17A1 missense variant causing combined 17α-hydroxylase/17,20-lyase deficiency; homozygotes lose all sex steroid and cortisol synthesis, developing hypertension, hypokalemia, and absent puberty; heterozygous carriers are asymptomatic but carry reproductive risk

Selenium-dependent antioxidant enzyme that neutralizes hydrogen peroxide; the Leu variant reduces enzyme activity and responsiveness to selenium

Intronic FBN1 variant that requires two copies of the G allele to impair fibrillin-1's TGF-β1 sequestration, elevating aortic dissection risk in a recessive pattern

No-function CYP2C9 variant with major warfarin implications

3' UTR and intronic IL23R variant disrupting Let-7e/Let-7f miRNA binding — the A allele elevates IL-23 receptor expression and is associated with ankylosing spondylitis, inflammatory bowel disease, and rheumatoid arthritis susceptibility; the C allele was independently associated with Graves' ophthalmopathy in a Caucasian cohort