No-function CYP2C9 variant with major warfarin implications

Nonsense variant in BMPR2 introducing a premature stop codon (p.Arg321Ter) that truncates the kinase domain; hereditary cause of pulmonary arterial hypertension with incomplete penetrance and autosomal dominant inheritance

Intergenic variant near JAK2 that increases JAK2 expression and JAK-STAT signaling, disrupting intestinal barrier function and increasing IBD susceptibility

Regulatory variant in the lymphotoxin beta receptor gene associated with increased susceptibility to recurrent throat infections and tonsillectomy

PPARG promoter-region enhancer variant that reduces PPARgamma expression, increasing risk for metabolic disease, coronary artery disease, and impaired insulin signalling

GIANT consortium GWAS obesity locus near GNPDA2 — affects hexosamine-pathway-mediated glucose homeostasis and adipogenesis, increasing BMI risk

Missense variant in the inhibitory synapse regulator MDGA1 that impairs neuroligin-2/neurexin interaction, reducing GABAergic tone and increasing insomnia risk

Upstream regulatory variant that increases LPAR1 transcriptional activity in synovial cells, associated with elevated knee osteoarthritis susceptibility in Japanese populations

Distal enhancer variant ~26 kb upstream of FSHB associated with FSH levels, dizygotic twinning, PCOS susceptibility, age at menopause, and male reproductive parameters

Intronic variant in the circadian clock regulator RORA; the T allele is protective against asthma in European cohorts with genome-wide significant replication