Frameshift deletion in the OTC gene that eliminates ornithine transcarbamylase activity; causes severe neonatal hyperammonemia in hemizygous males and variable hyperammonemia in heterozygous females, the most common urea cycle disorder

Intergenic variant near STN1 (telomere maintenance) and SLK (cytoskeletal kinase) associated with uterine fibroid risk in multiple GWAS

Upstream regulatory variant of IL18R1 on chromosome 2q12; the T risk allele increases IL-18 receptor expression and Th1/NK inflammatory signaling, raising susceptibility to COPD and linking to the broader IL1RL1/IL18RAP autoimmune-inflammation locus

Intergenic variant 5 kb downstream of TBX21 (encoding the T-bet transcription factor) within the TBX21/OSBPL7 intergenic region; the G allele is associated with systemic sclerosis susceptibility and is thought to tag regulatory variation affecting the TBX21-IFNG transcriptional axis governing Th1 immune polarization.

Splice-region variant in TNFR1 that generates a soluble Δ6 isoform mimicking anti-TNF drugs, conferring MS risk and explaining why TNF blockers worsen demyelinating disease

A synonymous variant in CBS affecting homocysteine metabolism and associated with modest changes in transsulfuration pathway activity

Rare HNF1B splice-region intronic variant of uncertain significance, found near exon 9 of the HNF1B gene and submitted to ClinVar in the context of renal cysts and diabetes syndrome (MODY5 / HNF1B-related disease)

Reduces ABCG2 transporter function affecting rosuvastatin levels and uric acid excretion, increasing risk for statin side effects and gout

Cryptochrome 1 circadian gene variant influencing glucose metabolism, sleep timing, mood regulation, and metabolic responses to diet

Intronic variant in the master regulator of brown/beige fat differentiation, GWAS-validated for migraine risk and linked to impaired thermogenesis and blood pressure regulation