Moderate-penetrance stop-gain variant truncating the last 93 amino acids of BRCA2, associated with modestly increased risk of breast, ovarian, and lung cancers — distinct from pathogenic BRCA2 mutations

Intronic variant in the AMPA glutamate receptor gene GRIA1 associated with restless legs syndrome risk via hyperglutamatergic thalamic excitability

Missense variant (Asp575Asn) in the ERAP1 catalytic domain that modestly reduces peptide trimming efficiency; the protective T allele (Asn575) is co-protective with rs30187 Arg528, with combined homozygous protective state conferring 3-4x lower ankylosing spondylitis risk in HLA-B27-positive individuals

DAO structural variant affecting enzyme activity and histamine degradation

A regulatory tag SNP in the IL1A/IL1B locus on chromosome 2q13; the G allele increases endometriosis risk (OR 1.12) and correlates with elevated IL-1 alpha expression, driving peritoneal inflammation and ectopic lesion establishment.

Intronic variant in the sodium bicarbonate cotransporter gene strongly associated with salt-sensitive blood pressure through enhanced renal sodium reabsorption

Intergenic variant between GRB14 and COBLL1 that acts as an eQTL for GRB14 in adipose tissue, shifting body fat toward peripheral (hip and limb) versus central (visceral) deposition

Intronic IL1RL1 variant tagging an independent regulatory signal at the ST2 locus; A allele increases late-onset wheeze risk and affects sST2 (decoy receptor) expression independently of the primary rs1420101 signal

Rare protective missense variant in the GLP-1 receptor associated with lower fasting glucose, reduced T2D risk, and coronary heart disease protection

Missense variant in lymphotoxin-alpha, a TNF superfamily cytokine essential for secondary lymphoid organ formation and innate immune coordination; the A allele (Asn at position 26 of mature protein) alters LTα trimer stability, modestly increases cancer susceptibility, and has been associated with coronary atherosclerosis and respiratory infection risk