Missense variant in the VWF D' domain that abolishes high-affinity Factor VIII binding, causing type 2N (Normandy) von Willebrand disease — a recessively-expressed bleeding disorder mimicking mild hemophilia A

Intronic variant in VEZT (vezatin, adherens junction transmembrane protein) on chromosome 12q23.2; the T allele is associated with increased endometriosis risk across multiple large GWAS meta-analyses, with an odds ratio of approximately 1.08 per allele

An intergenic tag SNP ~50 kb downstream of PRSS23 (serine protease 23) on chromosome 11q14.2; the G allele is associated with higher serum FSH levels in a dose-responsive pattern (AA 9.0, AG 9.5, GG 10.7 IU/L) and with PCOS susceptibility, reflecting PRSS23's role in granulosa cell survival and follicular atresia

3'UTR variant that disrupts miR-425 binding, increasing atrial natriuretic peptide levels and conferring cardioprotection against hypertension and metabolic syndrome

Intronic C2 variant forming the H7 protective haplotype with CFB R32Q, reducing classical complement activation and cutting AMD risk by roughly half

Synonymous coding variant in CYP17A1 that tags a haplotype linked to altered DHEA-S levels and steroid production; associated with prostate cancer progression and castration-resistant prostate cancer risk

Nonsense variant eliminating filaggrin protein, the major genetic risk factor for atopic dermatitis and the atopic march from eczema to asthma and food allergy

Intronic variant in the UGT1A gene cluster (chromosome 2q37) strongly associated with serum bilirubin levels; the T allele reduces glucuronidation capacity, causing mild hyperbilirubinemia and a dose-dependent increase in pigment gallstone risk

Synonymous LDLR variant that disrupts exon 12 splicing, reduces LDL receptor surface expression by ~22%, and raises LDL cholesterol — particularly in pre-menopausal women

Tag SNP identifying HLA-DQ8 haplotype, second strongest genetic risk factor for celiac disease and major type 1 diabetes risk marker