Intronic variant in TMEM150B (19q13.42) associated with age at natural menopause and early menopause risk; the C allele may contribute to earlier follicular depletion.

Intronic CTH variant where GG homozygotes show significantly elevated preeclampsia risk; the G allele tags reduced placental H₂S production and impaired vascular adaptation during pregnancy, with no significant association with essential hypertension

Intronic variant in the brain cholesterol 24-hydroxylase gene; C allele associated with a higher 24S-hydroxycholesterol/cholesterol ratio in CSF and modestly elevated Alzheimer's disease risk, primarily in East Asian populations

3'UTR variant controlling ASIP protein output; G allele reduces ASIP mRNA 12-fold, promoting eumelanin and darker skin, hair, and eye pigmentation

A2 domain missense variant in von Willebrand factor associated with type 2A von Willebrand disease; the proline substitution destabilizes the A2 domain, increasing susceptibility to ADAMTS13 proteolysis and depleting high-molecular-weight multimers required for platelet adhesion

Missense variant in PCSK1 encoding an Asn221Asp substitution near the Ca-1 calcium binding site of prohormone convertase 1/3 (PC1/3); impairs catalytic activity by approximately 10%, reducing cleavage of proinsulin to insulin, POMC to alpha-MSH, and proglucagon to GLP-1; the strongest functionally-characterized common PCSK1 coding variant, with OR 1.15 for obesity in meta-analysis of over 331,000 individuals across multiple ethnic groups

Protective missense variant in complement factor B that reduces alternative pathway C3 convertase formation, lowering AMD risk by roughly half and dampening complement-driven tissue damage

Affects paraoxonase-1 enzyme activity for detoxifying organophosphates and protecting LDL from oxidation

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

Intronic variant near the CYP19A1 promoter region, falling within MIR4713HG but mapping to the CYP19A1 RefSeqGene locus; associated with breast cancer histological grade and tumor size in a Swedish cohort, consistent with its position in the aromatase regulatory zone