Tag SNP in the NBPF3/ALPL locus on chromosome 1 — the strongest common genetic determinant of circulating vitamin B6 (PLP) levels, acting through alkaline phosphatase-mediated catabolism

A 3'UTR regulatory variant where the G allele creates a miR-338-3p binding site that suppresses FURIN expression, reducing cleavage of proBDNF to mature BDNF and shifting neurotrophin signaling toward pro-apoptotic pathways

Intronic IRGM variant raising risk for Crohn's disease — particularly ileal disease and fistulizing complications

9p21.3 CAD risk signal in ANRIL; G allele elevates coronary artery disease risk ~30% per allele and is specifically amplified by sugar-sweetened beverage intake

Pathogenic missense variant in the VWF propeptide D2 domain that introduces an aberrant N-glycosylation site, disrupting VWF multimerization and Weibel-Palade body storage

Intergenic 6q25.1 variant between CCDC170 and ESR1; the C allele is an eQTL for CCDC170 expression and is associated with breast cancer risk, bone density, and estrogen-sensitive tissue proliferation

Regulatory variant upstream of TNFAIP3 that reduces A20 expression and impairs NF-kB negative feedback, increasing susceptibility to rheumatoid arthritis and multiple autoimmune diseases

Intronic variant in the autophagy regulator CLEC16A, influencing risk for type 1 diabetes and multiple sclerosis

Intronic variant in the renal sodium-bicarbonate cotransporter gene SLC4A5 associated with salt sensitivity of blood pressure; A allele carriers show amplified blood pressure responses to high dietary sodium.

Most common amyloidogenic TTR variant in African Americans, causing late-onset hereditary transthyretin cardiac amyloidosis (hATTR-CM); now treatable with TTR stabilizers