Pathogenic missense variant in the ventricular regulatory myosin light chain gene causing familial hypertrophic cardiomyopathy with ~75% penetrance

Intronic variant in TSBP1-AS1 (LOC101929163), a non-coding antisense RNA in the HLA region between TSBP1 and BTNL2 on chromosome 6p21.32; the G allele is associated with increased risk of non-obstructive azoospermia in Han Chinese men, with an odds ratio of approximately 1.42 in a large multi-stage GWAS

Promoter variant that increases angiotensinogen gene transcription, raising plasma AGT levels and contributing to hypertension risk

Intronic regulatory variant in TNFAIP3 — the primary NF-kB brake gene — with the C allele independently increasing psoriasis susceptibility (OR 1.23) and showing pleiotropic associations across multiple autoimmune conditions

Second component of the APOL1 G1 kidney disease risk haplotype — a missense variant that, together with rs73885319 (S342G), confers 7- to 29-fold increased risk for non-diabetic CKD under a recessive inheritance model in African-ancestry populations

Missense variant in the extracellular domain of the FSH receptor that removes an O-linked glycosylation site, altering FSH binding affinity; nearly completely co-inherited with rs6166 (Asn680Ser) and associated with poor ovarian response in IVF and PCOS susceptibility

Nonsense mutation creating a premature stop codon in von Willebrand factor; heterozygotes have VWD type 1 (partial VWF deficiency) and homozygotes have VWD type 3, the most severe bleeding disorder caused by near-complete absence of VWF

Second strongest obesity GWAS locus after FTO

Promoter polymorphism that controls PON1 gene expression — the T allele (A on the plus strand) reduces transcription factor binding, halving arylesterase activity and lowering HDL-mediated antioxidant protection against LDL oxidation.

Influences HDL cholesterol levels and particle size through effects on cholesterol ester transfer protein activity