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

Master regulator of iron absorption via hepcidin control — the strongest common genetic determinant of iron status

3'-UTR regulatory variant in IL13 that influences IL-13 mRNA stability and expression level; the minor A allele co-segregates with the rs20541 Q130 risk haplotype and is associated with elevated serum IgE and increased susceptibility to atopic dermatitis and allergic rhinitis through amplified IL-13 Th2 signaling

Pathogenic missense variant at the TMPRSS3 autocatalytic cleavage site causing serine protease domain dysfunction and autosomal recessive sensorineural hearing loss (DFNB8/DFNB10); originally identified in consanguineous Turkish families