Missense variant in allograft inflammatory factor 1 (Iba1), a macrophage-expressed calcium-binding protein in the MHC class III region, associated with rheumatoid arthritis susceptibility and systemic sclerosis

Missense variant in NPR3 clearance receptor disrupting Gi protein coupling, independently associated with diastolic dysfunction (OR 1.94) and reduced salt-sensitivity of blood pressure

Regulatory variant in the MDM2 promoter that increases Sp1 transcription factor binding, raising MDM2 levels and accelerating p53 degradation — associated with earlier age of cancer onset

Missense variant that impairs platelet-neutrophil binding and blocks flow-dependent NETosis; carriers of the Q154 (A) allele have ~15–30% reduced VTE risk

Intronic variant in HSPA4L within a chromosome 4 haplotype spanning PLK4; the A allele is associated with increased mitotic-origin embryo aneuploidy, reduced blastocyst formation in IVF, and elevated early recurrent miscarriage risk in women; HSPA4L itself is highly expressed in spermatogenic cells and required for normal sperm production

Intergenic variant at 7q36.1 near KCNH2 (hERG potassium channel) that modulates QTc interval duration; C allele shortens QTc by ~1.4–1.8 ms per allele and tags an independent repolarization-modifying signal at the KCNH2 locus

Intronic NADSYN1 variant at the DHCR7/NADSYN1 vitamin D locus; A allele was the top GWAS hit for lower circulating 25-hydroxyvitamin D in Ahn et al. 2010 (P = 3.4×10⁻⁹), reducing 7-dehydrocholesterol availability for skin vitamin D3 synthesis

3'UTR variant in the ATP-binding cassette transporter A1 gene; the G allele (homozygous GG) is enriched in ischemic stroke patients and associates with lower total cholesterol, suggesting impaired cholesterol efflux capacity may elevate cerebrovascular risk

Intronic PPP1R3B variant that increases hepatic glycogen accumulation, elevating liver enzymes and raising the risk of non-alcoholic fatty liver disease and gallstones

Vitamin D activation — converts D3 to 25(OH)D in the liver