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

Pathogenic missense in the VWF D3 domain that abolishes factor VIII binding; homozygotes and compound heterozygotes develop type 2N von Willebrand disease, presenting as low FVIII with normal VWF antigen and often misdiagnosed as haemophilia A

Missense variant in SHBG exon 8 (p.Asp356Asn, historically Asp327Asn in mature-protein numbering) that adds an N-linked glycosylation site to the C-terminal domain, increasing SHBG serum half-life and circulating SHBG levels; the A allele is associated with higher total SHBG, lower free-androgen index, and a protective effect against PCOS and metabolic syndrome, but with worse prostate cancer outcomes during androgen deprivation therapy.

Intronic variant in PRKG2 (cGMP-dependent protein kinase II); the T allele was associated with gout susceptibility in a recessive model in a Taiwanese population, proposed to amplify joint inflammation via cGKII-driven macrophage M1 polarization, though a Japanese replication study found no association

Silent variant affecting LDL particle number and lipid metabolism; A allele carriers have higher ApoB, LDL-C, and total cholesterol levels

Intronic variant in TNFSF4 that tags an upstream regulatory haplotype associated with altered OX40 ligand expression, influencing T cell co-stimulation and susceptibility to autoimmune thyroid disease and viral immune responses

Intronic variant in IL13 that tags the atopic risk haplotype; the minor T allele co-segregates with rs20541 (R130Q) and rs1295685 on the same risk haplotype block and is consistently associated with elevated serum IgE, asthma susceptibility, atopic dermatitis, and food allergy through amplified IL-13 Th2 signaling

Upstream regulatory variant in G6PC2 that modulates pancreatic beta-cell glucose-sensing; the T allele reduces G6PC2 expression and lowers fasting blood glucose

Intronic CD58 variant hosting the miR-548ac stem-loop; the C allele creates a G-U wobble base pair that enhances Drosha cleavage, increasing miR-548ac while reducing CD58 mRNA — the mechanistic anchor of the CD58 MS-risk haplotype

Vitamin D receptor — affects how well vitamin D activates cellular processes