Nonsense variant in MMAB creating a premature stop codon (Q234*) that impairs adenosylcobalamin synthesis; pathogenic for methylmalonic aciduria cblB type in biallelic state; heterozygous carriers are asymptomatic.

Promoter variant in the ITPR3 calcium channel gene affecting NKX2.5 binding and immune cell calcium signaling, associated with lupus, Graves' disease, and rheumatoid arthritis risk

Intronic variant in beta-adducin associated with hypertension susceptibility in a Japanese GWAS

Rare pathogenic missense variant in protein S causing hereditary type III protein S deficiency, with carriers at elevated risk for venous thromboembolism and white matter stroke

Intronic ABCA1 variant — T-allele homozygotes show modestly lower HDL

Intronic SKIV2L variant in the MHC class III region; the T allele tags an independent susceptibility signal for systemic lupus erythematosus separate from HLA-DRB1

Intergenic variant in the MC4R regulatory haplotype block, tagging the same appetite-suppression pathway as rs17782313 and associated with increased BMI, fat mass, and obesity risk

Synonymous variant in LDLR exon 13 that modulates mRNA splicing efficiency in concert with rs688, influencing LDL receptor levels and LDL-cholesterol concentrations

Intergenic GWAS variant on chromosome Xp22, near the testis-specific genes FAM9B and FAM9A, associated with serum testosterone levels in men; the C allele is linked to higher testosterone and the T allele (major) to lower testosterone

Rare pathogenic missense variant in the UGT1A1 gene that severely reduces bilirubin glucuronidation; homozygotes develop Crigler-Najjar syndrome type II with persistent unconjugated hyperbilirubinemia that responds to phenobarbital treatment