Rare missense variant in desmoplakin that likely disrupts desmosomal integrity and is associated with arrhythmogenic cardiomyopathy risk

Intronic variant in the brain cholesterol 24-hydroxylase gene; C allele associated with a higher 24S-hydroxycholesterol/cholesterol ratio in CSF and modestly elevated Alzheimer's disease risk, primarily in East Asian populations

Missense variant in Toll-like receptor 4 that co-segregates with Asp299Gly on the same haplotype, together reducing LPS-driven innate immune signaling and altering gram-negative bacterial recognition

Intronic variant in TC2N (tandem C2 domains, nuclear) robustly associated with venous thromboembolism risk; the T allele increases VTE risk and was validated by CRISPR zebrafish knockdown as a genuine novel hemostasis gene

Promoter-proximal upstream variant in TCN2 that increases transcobalamin II protein production, boosting circulating capacity to transport vitamin B12 to cells

Pathogenic missense variant in the VWF propeptide D2 domain that prevents high molecular weight multimer assembly in the Golgi apparatus; homozygous carriers develop von Willebrand disease type 2A with mucocutaneous bleeding, while heterozygotes are typically unaffected

Functional promoter variant in the serotonin 1A receptor gene that increases autoreceptor expression in raphe neurons and reduces serotonergic output, predicting poor antidepressant response

Affects paraoxonase-1 enzyme activity for detoxifying organophosphates and protecting LDL from oxidation

Intronic variant in CDKAL1, a tRNA methylthiotransferase gene; the C allele is associated with increased risk of Crohn's disease and shared pleiotropic risk for psoriasis through immune cell expression of CDKAL1

Missense variant in the ghrelin prepropeptide that impairs postprandial ghrelin suppression, increasing appetite, sugar intake, and metabolic syndrome susceptibility