Intronic variant near ST3GAL4 that modulates VWF and Factor VIII sialylation, slowing their hepatic clearance and raising plasma levels — an established independent VTE risk factor

Intronic GWAS variant in the TRAF1-C5 locus on chromosome 9 robustly associated with seropositive rheumatoid arthritis risk; the G allele tags a haplotype that upregulates TRAF1 expression and amplifies NF-kB-driven joint inflammation

Synonymous RSBN1 variant that tags a PTPN22 locus haplotype independently associated with early-onset psoriasis, psoriatic arthritis risk, and Graves' disease susceptibility. Curator note — gene field stays RSBN1 (LD-block proximity), but the functional signal is at the PTPN22 locus; do not double-count with rs2476601 (PTPN22 R620W) when both appear in the same panel as they tag overlapping autoimmune risk.

Missense variant substituting valine with methionine at position 327 of TLR6, predicted damaging by SIFT and PolyPhen; the Met327 allele is rare globally but reaches 6% in East Asian populations and alters TLR2/TLR6 heterodimer function, affecting diacylated lipopeptide recognition from bacteria and mycoplasma with downstream consequences for innate immune regulation and autoimmune-inflammatory risk

Missense variant in selenoprotein P that alters selenium transport capacity; the T allele (Thr234) is associated with lower circulating SELENOP levels after selenium intake and elevated risk of adverse outcomes in prostate cancer and retinopathy of prematurity

Missense variant in MYH15 encoding a Thr1105Ala substitution in myosin heavy chain 15, associated with modest coronary heart disease and noncardioembolic stroke risk

Near-HLA-C intergenic variant that tags HLA-C*06:02 haplotype, conferring risk for early-onset psoriasis vulgaris through MHC class I antigen presentation

Intergenic variant near MC4R with genome-wide significant association with antipsychotic-induced weight gain, particularly olanzapine and clozapine; also tags the MC4R locus for general BMI effects

Intronic variant in TSBP1-AS1 (LOC101929163), a non-coding antisense RNA in the HLA region between TSBP1 and BTNL2 on chromosome 6p21.32; the G allele is associated with increased risk of non-obstructive azoospermia in Han Chinese men, with an odds ratio of approximately 1.42 in a large multi-stage GWAS

Intronic NEDD4L variant influencing ubiquitin ligase isoform expression and salt-sensitive blood pressure regulation via the ENaC pathway