Most common pathogenic MUTYH variant; biallelic carriers develop MUTYH-Associated Polyposis with ~28-fold increased colorectal cancer risk, while heterozygous carriers have a modest CRC risk elevation (OR ~1.3)

Intronic SLC2A9 variant tagging the GLUT9 urate-transport locus; the C allele is markedly enriched in East Asian populations (~41%) compared to Europeans (~5%) and may influence SLC2A9 splicing, modestly elevating serum uric acid and gout risk via linkage with the broader SLC2A9 risk haplotype

Intronic STK39 variant that increases SPAK kinase expression, enhancing phosphorylation of renal sodium cotransporters NCC and NKCC2 and raising blood pressure through excess sodium reabsorption.

Pathogenic nonsense variant (Q359X) in KCNQ1 that truncates the IKs potassium channel, causing Long QT syndrome type 1 with markedly increased risk of life-threatening arrhythmias during exercise and emotional stress

Common missense variant in PCSK9 exon 12 where the rare G allele raises LDL cholesterol and increases coronary artery disease risk through enhanced LDLR degradation

Intronic variant in ABCB11 in strong linkage disequilibrium with G6PC2 regulatory SNPs; the A allele tags higher G6PC2 expression in pancreatic beta cells, elevating the fasting blood glucose set-point by ~0.065 mmol/L per allele

Near-gene regulatory variant affecting vitamin D 24-hydroxylase expression — modulates the rate at which active vitamin D is degraded

Intronic MTR variant associated with altered methionine synthase expression and neural tube defect risk

3-prime UTR variant in the SLC30A8 zinc transporter gene that alters ZnT8 mRNA expression via allele-specific mechanisms, providing additional signal on zinc-mediated insulin processing and type 2 diabetes susceptibility at this locus

Missense variant in EVI5's coiled-coil domain altering immune cell trafficking and multiple sclerosis susceptibility