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

Frameshift deletion in the CHEK2 checkpoint kinase that abolishes kinase activity, conferring moderate-penetrance susceptibility to breast, colorectal, and prostate cancer

Coding VNTR in exon 18 of the circadian clock gene PER3; 4-repeat vs 5-repeat alleles alter chronotype, cardiac autonomic balance, and circadian patterning of cardiovascular events

Intronic variant that influences CPT1A expression and fatty acid oxidation capacity, with effects on HDL cholesterol and desaturase enzyme activity