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

Promoter variant affecting adiponectin secretion and metabolic syndrome risk

Intestinal fat absorption - affects how efficiently you absorb dietary fat

The original TPMT deficiency allele — a no-function star allele causing ~100-fold loss of thiopurine methylation activity through accelerated proteolysis; independent of the TPMT*3 cluster and found almost exclusively in people of European ancestry