Reduces salivary carbonic anhydrase VI (gustin) secretion, impairing oral acid buffering and increasing susceptibility to dental caries

Missense variant in LTBP4 encoding Val194Ile; the A allele (Ile) forms the IAAM haplotype that binds latent TGF-β1 with higher avidity, reducing free TGF-β signaling and acting as a protective modifier of Duchenne muscular dystrophy severity — IAAM homozygotes retain ambulation approximately 1.8 years longer than VTTT carriers under glucocorticoid treatment

Protective missense variant that reduces MTARC1 protein stability, cutting hepatic fat accumulation and lowering risk of NAFLD, NASH, and liver-related death

Intergenic variant at 7q36.1 near KCNH2 (hERG potassium channel) that modulates QTc interval duration; C allele shortens QTc by ~1.4 ms per allele and tags an independent repolarization-modifying signal at the KCNH2 locus

Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxylase/17,20-lyase activity; homozygotes develop 17α-hydroxylase deficiency (CAH) with absent sex steroids, primary amenorrhea, and mineralocorticoid excess

Stop-gain mutation eliminating connexin 26 function; the most common GJB2 deafness allele in South Asian populations and the ancestral founder mutation carried into European Romani communities

Folate transporter — how well folate gets into your cells

CYP2C8 3-prime UTR variant associated with cardiovascular risk via altered epoxyeicosatrienoic acid metabolism and hydroxychloroquine-related renal adverse effects

Regulatory variant upstream of CDKN2A/CDKN2B at the 9p21 locus; the T risk allele (major, ~83% globally) impairs cyclin-dependent kinase inhibitor expression and reduces beta-cell proliferative capacity, increasing type 2 diabetes risk by ~24% per allele

Splice donor variant in plakophilin-2 that disrupts mRNA splicing at an exon–intron boundary, causing desmosomal haploinsufficiency and predisposing heterozygous carriers to arrhythmogenic right ventricular cardiomyopathy