Upstream regulatory variant in the CTLA4 MH30 region associated with latent autoimmune diabetes in adults (LADA); the G allele reduces soluble CTLA-4 expression and is linked to the disease-risk haplotype

Intronic CBS variant that tags the CBS locus in GWAS studies; associated with altered homocysteine metabolism capacity and one-carbon methylation efficiency

Intronic variant near ZNF346 and FGFR4 on chromosome 5q35.2, associated with uterine fibroid (leiomyoma) risk via cis-eQTL upregulation of FGFR4 and UIMC1

Intronic variant in the androgen-regulating DENND1A gene associated with polycystic ovary syndrome (PCOS) risk; the G allele is linked to increased PCOS susceptibility and elevated post-load insulin levels, primarily in East Asian and Han Chinese populations

Intronic ERAP1 variant that increases expression, raising psoriasis risk specifically in HLA-C*06:02 carriers through enhanced autoantigen trimming

Intronic ADAMTS13 variant modulating plasma ADAMTS13 levels; the G allele confers ~6.7% higher ADAMTS13 concentration, boosting VWF-cleaving capacity and reducing thrombotic risk — AA homozygotes have the lowest genetically determined ADAMTS13 activity

Missense variant abolishing 3β-hydroxysteroid dehydrogenase type 2 activity; homozygotes develop salt-wasting congenital adrenal hyperplasia, heterozygous carriers are clinically normal but can pass the allele to offspring

Synonymous variant in TLR9 that increases receptor expression, amplifying innate immune responses to bacterial and viral DNA via CpG motif recognition

Rare pathogenic TMPRSS6 missense in the LDLRA2 domain that impairs hemojuvelin cleavage and causes iron-refractory iron deficiency anemia (IRIDA) by preventing hepcidin suppression

NOS3 promoter variant that reduces eNOS expression and increases hypertension risk by disrupting an ETS transcription factor binding site