Nonsense mutation in STAR that abolishes steroidogenic acute regulatory protein function; the most prevalent allele causing lipoid congenital adrenal hyperplasia, accounting for approximately 70% of cases globally — homozygotes have near-complete loss of all steroid hormone synthesis

Intergenic regulatory variant at 6q23 near TNFAIP3 whose T allele is protective against rheumatoid arthritis in Europeans, representing the second independent RA signal at this locus alongside risk variant rs6920220

Intronic CYP2C9 haplotype tag associated with increased ischemic stroke risk in Asian populations, acting through altered epoxyeicosatrienoic acid (EET) production and impaired cerebrovascular tone regulation

BANK1 scaffold protein missense variant that shifts B-cell receptor signaling toward hyperactivation, increasing risk for systemic lupus erythematosus and other B-cell-driven autoimmune diseases

Frameshift deletion in coagulation factor XI causing complete loss of the FXI protein; homozygous carriers develop hemophilia C (severe FXI deficiency) with bleeding after surgery and trauma, while heterozygous carriers may have partial deficiency with variable bleeding risk

Intronic variant in the histidine-catabolism gene AMDHD1 that influences circulating 25-hydroxyvitamin D levels through a pathway outside classical vitamin D metabolism

Reduces CYP2R1 promoter activity and hepatic 25-hydroxylase expression, lowering circulating 25(OH)D independently of rs10741657

Deeply intronic SLC2A9 variant at chromosome 4:9,949,597 (GRCh38) within the GLUT9 renal urate transporter locus; the T allele (GRCh38 reference) is common in East Asian populations (~92%) where gout prevalence is highest, while the C allele (~71% in Africans) tags a haplotype associated with more efficient renal urate clearance and lower serum uric acid setpoint

Common intronic variant at the NRG4 locus; NRG4 is a brown adipose tissue-enriched batokine that suppresses hepatic de novo lipogenesis via ErbB4/STAT5/SREBP-1c signaling; lower NRG4 expression is associated with hepatic steatosis, metabolic syndrome, and impaired lipid metabolism

3'UTR regulatory variant in the primary intestinal zinc efflux transporter, with potential impact on ZnT1 expression and systemic zinc status