ADH1B variant encoding a ~100x faster alcohol dehydrogenase enzyme, causing rapid acetaldehyde accumulation, the "Asian flush" response, and strong protection against alcoholism — but elevated esophageal cancer risk in carriers who drink

Intronic PDC variant in the phosducin gene — G homozygotes show 12–15 mmHg higher stress-induced blood pressure than A-allele carriers due to reduced sympathetic dampening.

Intronic variant near ALPL associated with increased alkaline phosphatase activity, lowering circulating PLP (the active form of vitamin B6) — those with two G copies have higher ALPL activity and lower plasma B6 levels

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