Rare pathogenic missense variant in the VWF A3 collagen-binding domain causing isolated collagen-binding deficiency (type 2M/2CB von Willebrand disease) with normal multimers but impaired platelet adhesion to subendothelial collagen

3'UTR variant in estrogen receptor alpha that alters miR-453 binding affinity; the C allele strengthens microRNA-mediated ESR1 repression while the T allele weakens it, raising ESR1 protein levels and increasing premenopausal breast cancer risk

Regulatory variant in the 3′ UTR of HLA-DPA1 that controls surface expression of HLA-DP antigen-presenting molecules; G allele reduces HLA-DPA1 mRNA expression and increases susceptibility to chronic hepatitis B infection while impairing HBV vaccine antibody response

Affects optic nerve development and retinal ganglion cell survival, strongly associated with primary open-angle glaucoma risk

A 3'UTR regulatory variant in HEY2, a Notch signaling transcription factor expressed in pregranulosa cells during the critical neonatal window of primordial follicle assembly; the T allele is derived and globally common, and may tag elevated HEY2 expression relative to the G reference; GG homozygotes represent the baseline HEY2 signaling state.

Intronic ITGAV variant associated with rheumatoid arthritis susceptibility in a family-based European study, though larger meta-analyses have not replicated the association; may tag a regulatory haplotype affecting integrin-mediated immune cell trafficking and synovial angiogenesis

Synonymous coding variant in the URAT1 renal urate transporter; the C allele is associated with increased urate reabsorption and 27% higher odds of hyperuricemia, completing the URAT1 genetic panel alongside rs505802 (promoter) and rs121907892 (W258X)

Intronic NEDD4L variant that tags reduced ubiquitin-ligase activity toward the epithelial sodium channel, increasing renal sodium reabsorption and raising diastolic blood pressure

Intronic variant in the Factor IX gene in near-perfect linkage disequilibrium with the rs6048 missense variant; the C allele tags the same modestly protective haplotype for deep vein thrombosis identified in the Bezemer 2009 GWAS

Missense variant in LRP8 (ApoER2) replacing arginine with glutamine at position 952; the Q allele contributes to the TACGC risk haplotype linked to early-onset familial myocardial infarction, elevated triglycerides, and altered platelet reactivity via impaired apolipoprotein E signaling