Intronic variant in NEDD4L associated with reading ability and dyslexia susceptibility, within a gene that regulates ENaC sodium channel expression and blood pressure

X-linked intronic variant in IL1RAPL2, a synaptic adhesion gene expressed exclusively in the central nervous system; carried as a haplotype associated with thyrotoxic hypokalaemic periodic paralysis in a Thai cohort, though this association was not replicated in a Korean population

A missense variant in the TYK2 pseudokinase (JH2) domain that partially impairs TYK2 catalytic regulation, reducing IL-12-stimulated STAT4 signaling and conferring independent protection against rheumatoid arthritis, psoriasis, SLE, and type 1 diabetes

Missense variant in the IL-17 adaptor Act1 (Arg74Trp) that is the primary GWAS hit for psoriatic arthritis at the TRAF3IP2 locus (OR=1.83, P=8.56×10⁻¹⁷); in strong LD with the functional D10N variant but appears to tag a partially overlapping, PsA-enriched haplotype

Cis-regulatory IRF5 variant in near-perfect LD (r²=0.97) with the rs729302 protective haplotype; the T allele reduces IRF5 expression and shows allele-specific transcription factor binding in EMSA, making it a functional candidate and a high-quality WGS tag for the 5' protective haplotype block that dampens interferon-driven autoimmune susceptibility

Regulatory variant upstream of BLK that reduces B-lymphoid tyrosine kinase expression, impairing B-cell tolerance and raising risk for SLE, Sjögren's syndrome, systemic sclerosis, and rheumatoid arthritis

LPL 3'UTR variant disrupting a microRNA-410 binding site; the C allele abolishes miR-410-mediated suppression of LPL mRNA, raising lipoprotein lipase activity and lowering plasma triglycerides

Intronic variant in the eumelanin enzyme TYRP1 associated with eye and hair color, UV sensitivity, and modestly elevated melanoma risk in Europeans

Missense variant in IL-1α (Ala114Ser) that acts as a common hypomorphic mutation — the minor Serine allele reduces IL-1α secretion by ~50% through post-translational retention; the Serine allele is associated with periodontitis susceptibility and ankylosing spondylitis in Europeans

Second most common inherited thrombophilia; the A allele raises prothrombin levels by 30%, increasing venous thromboembolism risk 2-5 fold and is highly actionable for women considering oral contraceptives